Publications

Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E. Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. Mol Genet Metab. 2025 Mar 19; 145 (1):109087 [Epub ahead of print]
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Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S, Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL, as the Hong Kong Mitochondrial Diseases Interest Group. Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025 Feb 25; 104 (4):e209779 Epub 2025 Jan 30
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Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S. Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Am J Med Genet A. 2025 Feb; 197 (2):e63890 Epub 2024 Sept 26
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Matheny-Rabun C, Mokashi SS, Radenkovic S, Wiggins K, Dukes-Rimsky L, Angel P, Ghesquiere B, Kozicz T, Steet R, Morava E, Flanagan-Steet H. O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder. Cell Rep. 2024 Nov 26; 43 (11):114976 Epub 2024 Nov 18
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Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wunsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53 Epub 2024 July 20
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Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26 (11):101218 Epub 2024 July 19
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Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Berat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, Mcwilliams P, Vernhes F, Plotkin H, Morava E, Ounap K. Genotype/phenotype relationship: lessons from 137 patients with pmm2-cdg. Human Mutation. 2024 Oct 3; 2024:8813121
Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones. Genet Med. 2024 Oct; 26 (10):101203 Epub 2024 July 02
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Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A. N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts. Glycobiology. 2024 Sep 30; 34 (11)
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Muffels IJJ, Sadek M, Kozicz T, Morava E. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants. J Inherit Metab Dis. 2024 Sep; 47 (5):935-944 Epub 2024 June 21
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Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep; 26 (9):101174 Epub 2024 June 03
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Mayfield JM, Hitefield NL, Czajewski I, Vanhye L, Holden L, Morava E, van Aalten DMF, Wells L. O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome. J Biol Chem. 2024 Sep; 300 (9):107599 Epub 2024 July 24
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Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Liu B, Majer O, Barton GM. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024 Aug 5; 221 (8) Epub 2024 May 23
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Budhraja R, Joshi N, Radenkovic S, Kozicz T, Morava E, Pandey A. Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts. Proteomics. 2024 Aug; 24 (15):e2400012 Epub 2024 Mar 12
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Zemet R, Hope KD, Edmondson AC, Shah R, Patino M, Yesso AM, Berger JH, Sarafoglou K, Larson A, Lam C, Morava E, Scaglia F. Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Mol Genet Metab. 2024 Aug; 142 (4):108513 Epub 2024 June 13
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Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E. Coagulation abnormalities and vascular complications are common in PGM1-CDG. Mol Genet Metab. 2024 Aug; 142 (4):108530 Epub 2024 July 02
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Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142(4):108509. Epub 2024 Jun 06.
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Johnsen C, Tabatadze N, Radenkovic S, Botzo G, Kuschel B, Melikishvili G, Morava E. SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient. Mol Genet Metab. 2024 Jul; 142 (3):108477 Epub 2024 Apr 18
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Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines. Mol Genet Metab. 2024 Jun; 142 (2):108472 Epub 2024 Apr 23
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Budhraja R, Radenkovic S, Jain A, Muffels IJJ, Ismaili MHA, Kozicz T, Pandey A, Morava E. Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. Mol Genet Metab. 2024 Jun; 142 (2):108487 Epub 2024 May 07
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Pucel J, Briere LC, Reuter C, Gochyyev P, LeBlanc K. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024 Jun; 26 (6):101115 Epub 2024 Mar 01
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Starosta RT, Lee AJ, Toolan ER, He M, Wongkittichote P, Daniel EJP, Radenkovic S, Budhraja R, Pandey A, Sharma J, Morava E, Nguyen H, Dickson PI. D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). Mol Genet Metab. 2024 Jun; 142 (2):108488 Epub 2024 May 09
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Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Hum Genet. 2024 May; 143 (5):649-666 Epub 2024 Mar 27
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Corona-Rivera JR, Martinez-Duncker I, Morava E, Ranatunga W, Salinas-Marin R, Gonzalez-Jaimes AM, Castillo-Reyes KA, Pena-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Orozco-Vela M, Brukman-Jimenez SA. TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient. Mol Genet Metab. 2024 May; 142 (1):108469 Epub 2024 Mar 28
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Bosnyak I, Sadek M, Ranatunga W, Kozicz T, Morava E. Normal transferrin glycosylation does not rule out severe ALG1 deficiency. JIMD Rep. 2024 May; 65 (3):135-143 Epub 2024 Apr 16
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Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. A complement C4-derived glycopeptide is a biomarker for PMM2-CDG. JCI Insight. 2024 Apr 8; 9 (7) Epub 2024 Apr 08
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Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Tekin M, Zuchner S. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol. 2024 Apr; 11 (4):1075-1079 Epub 2024 Mar 19
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Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquiere B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T. Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. Cell Rep. 2024 Mar 26; 43 (3):113883 Epub 2024 Mar 01
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Krzysciak W, Szwajca M, Smierciak N, Chrzan R, Turek A, Karcz P, Bryll A, Pilecki M, Morava E, Ligezka A, Kozicz T, Mazur P, Batko B, Skalniak A, Popiela T. From periphery immunity to central domain through clinical interview as a new insight on schizophrenia. Sci Rep. 2024 Mar 8; 14 (1):5755 Epub 2024 Mar 08
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Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet. 2024 Mar 7; 111 (3):529-543 Epub 2024 Feb 21
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Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bonnemann CG. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Ann Clin Transl Neurol. 2024 Mar; 11 (3):629-640 Epub 2024 Feb 04
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Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions. Genet Med. 2024 Feb; 26 (2):101027 Epub 2023 Nov 10
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Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W, Khokha MK, Bonnemann CG, Lucas CL, Lakhani SA. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genet Med. 2024 Feb; 26 (2):101023 Epub 2023 Nov 07
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Lu J, Toro C, Adams DR, Moreno CAM, Lee WP, Leung YY, Harms MB, Vardarajan B, Heinzen EL. LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants. BMC Genomics. 2024 Jan 26; 25 (1):115
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Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomme-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 4; 111 (1):96-118
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Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan; 194 (1):17-30 Epub 2023 Sept 25
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Martinez Duncker I, Mata-Salgado D, Shammas I, Ranatunga W, Daniel EJP, Cruz Munoz ME, Abreu M, Mora-Montes H, He M, Morava E, Zafra de la Rosa G. Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker. Front Genet. 2024; 15:1363558 Epub 2024 May 06
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Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E. Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases. Mol Genet Metab. 2023 Nov; 140 (3):107688 Epub 2023 Aug 23
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Barman H, Sikirica V, Carlson K, Silvert E, Carlson KB, Boyer S, Glaser R, Morava E, Wagner T, Lanpher B. Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data. Mol Genet Metab. 2023 Nov; 140 (3):107695 Epub 2023 Sept 02
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Starosta RT, Kerashvili N, Pruitt C, Schultz MJ, Boyer SW, Morava E, Lasio MLD, Grange DK. PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations. JIMD Rep. 2023 Nov; 64 (6):424-433 Epub 2023 Sept 20
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Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Turvey SE, Lehman A. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov; 60 (11):1092-1104 Epub 2023 June 14
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Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ades L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 Oct 17; 32 (21):3063-3077
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Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Oct; 261:113537 Epub 2023 June 02
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McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M, Hooper SR, Shashi V. Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors. J Genet Couns. 2023 Oct; 32 (5):993-1008 Epub 2023 Apr 02
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Karteszi J, Ziegler A, Tihanyi M, Elmont B, Zhang Y, Patocs B, Molnar MJ, Mehes G, Wells K, Jakus R, Bessenyei B, Ranatunga W, Morava E. Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy. Am J Med Genet A. 2023 Sep; 191 (9):2428-2432 Epub 2023 July 18
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Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy. Genet Med. 2023 Sep; 25 (9):100897 Epub 2023 May 13
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Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV. Congenital disorders of glycosylation: narration of a story through its patents. Orphanet J Rare Dis. 2023 Aug 29; 18 (1):247
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Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T. Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. Genes (Basel). 2023 Aug 4; 14 (8) Epub 2023 Aug 04
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Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 Aug 3; 110 (8):1414-1435
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Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. De novo missense variants in phosphatidylinositol kinase PIP5KIgamma underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. Am J Hum Genet. 2023 Aug 3; 110 (8):1377-1393 Epub 2023 July 13
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Balakrishnan B, Altassan R, Budhraja R, Liou W, Lupo A, Bryant S, Mankouski A, Radenkovic S, Preston GJ, Pandey A, Boudina S, Kozicz T, Morava E, Lai K. AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG). Transl Res. 2023 Jul; 257:1-14 Epub 2023 Jan 26
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Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R, Bademci G, Tekin M. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. Am J Med Genet A. 2023 Jul; 191 (7):1911-1916 Epub 2023 Mar 29
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Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquiere B, Morava E. Tracer metabolomics reveals the role of aldose reductase in glycosylation. Cell Rep Med. 2023 Jun 20; 4 (6):101056 Epub 2023 May 30
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Shah R, Johnsen C, Pletcher BA, Edmondson AC, Kozicz T, Morava E. Long-term outcomes in ALG13-Congenital Disorder of Glycosylation. Am J Med Genet A. 2023 Jun; 191 (6):1626-1631 Epub 2023 Mar 17
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De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E. Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. Mol Genet Metab. 2023 Jun; 139 (2):107606 Epub 2023 May 09
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Pujol-Gimenez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M, Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Ann Clin Transl Neurol. 2023 Jun; 10 (6):1046-1053 Epub 2023 May 16
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Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 Jun; 25 (6):100833 Epub 2023 Mar 31
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Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC, Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 Apr 19; 146 (4):1420-1435
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Rosenfeld LE, LeBlanc K, Nagy A, Ego BK, McCray AT. Participation in a national diagnostic research study: assessing the patient experience. Orphanet J Rare Dis. 2023 Apr 10; 18 (1):73
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Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E. Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. Mol Genet Metab. 2023 Apr; 138(4):107559. Epub 2023 Mar 17.
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Spillmann RC, Tan QK, Reuter C, Schoch K, Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genet Med. 2023 Apr; 25 (4):100353 Epub 2022 Dec 05
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Altassan R, Albert-Brotons DC, Alowain M, Al-Halees Z, Jaeken J, Morava E. Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG). JIMD Rep. 2023 Mar; 64 (2):123-128 Epub 2022 Nov 22
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Gardea-Resendez M, Coombes BJ, Veldic M, Tye SJ, Romo-Nava F, Ozerdem A, Prieto ML, Cuellar-Barboza A, Nunez NA, Singh B, Pendegraft RS, Miola A, McElroy SL, Biernacka JM, Morava E, Kozicz T, Frye MA. Antidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania. Mol Psychiatry. 2023 Mar; 28 (3):1020-1026 Epub 2022 Dec 13
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Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ Genom Med. 2023 Feb 10; 8 (1):4
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Saadalla A, Stuart M, Ashrani A, Pruthi R, Morava E, Chen D, Seheult J. In special coagulation, think horses not zebras: A clotted sample from a patient with congenital disorder of glycosylation. Int J Lab Hematol 2023 Feb; 45 (1):e6-e9 Epub 2022 Aug 10
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Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2023 Feb; 25 (2):100359
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Miller IM, Yashar BM, Macnamara EF. Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet J Rare Dis. 2023 Jan 9; 18 (1):6 Epub 2023 Jan 09
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Radenkovic S, Johnsen C, Schulze A, Lail G, Guilder L, Schwartz K, Schultz M, Mercimek-Andrews S, Boyer S, Morava E. Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series. Ther Adv Rare Dis. 2023 Jan-Dec; 4:26330040221150269 Epub 2023 Jan 26
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Morava E, Oglesbee D. Laboratory and metabolic investigations. Handb Clin Neurol. 2023; 194:167-172
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Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E. N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts. J Inherit Metab Dis. 2023 Jan; 46 (1):76-91 Epub 2022 Oct 04
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Muylle E, Jiang H, Johnsen C, Byeon SK, Ranatunga W, Garapati K, Zenka RM, Preston G, Pandey A, Kozicz T, Fang F, Morava E. TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels. J Inherit Metab Dis. 2022 Nov; 45 (6):1039-1047 Epub 2022 Sept 21
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Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, Francisco R, Ligezka AN, Morava E, Plotkin H, Jaeken J, Videira PA, Barros L, Dos Reis Ferreira V. Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals. Orphanet J Rare Dis. 2022 Oct 29; 17 (1):398
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Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schliesske S, Shashi V, Srivastava S, Thiffault I, Topol S, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 Oct 21; 145 (10):3383-3390
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Francisco R, Alves S, Gomes C, Granjo P, Pascoal C, Brasil S, Neves A, Santos I, Miller A, Krasnewich D, Morava E, Lam C, Jaeken J, Videira PA, Dos Reis Ferreira V. A Participatory Framework for Plain Language Clinical Management Guideline Development. Int J Environ Res Public Health. 2022 Oct 19; 19 (20)
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Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Kone-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL. Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 Oct; 81 (10):1453-1464 Epub 2022 July 22
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Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grunewald S, Morava E, Moslinger D, Scholl-Burgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME. Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet J Rare Dis. 2022 Sep 2; 17 (1):331 Epub 2022 Sept 02
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Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. J Inherit Metab Dis. 2022 Sep; 45 (5):969-980 Epub 2022 June 30
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Mousa J, Veres L, Mohamed A, De Graef D, Morava E. Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants. Mol Genet Metab Rep. 2022 Sep; 32:100901. Epub 2022 Jul 25.
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Wilke MVMB, Morava-Kozicz E, Koster MJ, Schmitz CT, Foster SK, Patnaik M, Warrington KJ, Klee EW, Pinto E Vairo F. Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report. BMC Rheumatol. 2022 Aug 30; 6 (1):54
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Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 2022 Aug 25; 31 (17):2934-2950
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Geiculescu I, Dranove J, Cosper G, Edmondson AC, Morava-Kozicz E, Carter LB. A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants. Am J Med Genet A. 2022 Aug; 188 (8):2438-2442 Epub 2022 June 04
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Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Jul; 188 (7):2005-2018 Epub 2022 Mar 26
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Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Horberg J, AlAbdi L, Mayer K, Utkur K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Jul; 24 (7):1567-1582 Epub 2022 Apr 28
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Ligezka AN, Mohamed A, Pascoal C, Ferreira VDR, Boyer S, Lam C, Edmondson A, Krzysciak W, Golebiowski R, Perez-Ortiz J, Morava E. Patient-reported outcomes and quality of life in PMM2-CDG. Mol Genet Metab. 2022 Jun; 136(2):145-151. Epub 2022 Apr 20.
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Boyer SW, Johnsen C, Morava E. Nutrition interventions in congenital disorders of glycosylation. Trends Mol Med. 2022 Jun; 28 (6):463-481 Epub 2022 May 10
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Accogli A, Radenkovic S, Ranatunga W, Ligezka AN, Riviere JB, Morava E, Trakadis Y. Could distal variants in ALG13 lead to atypical clinical presentation? Eur J Med Genet. 2022 Apr; 65 (4):104473 Epub 2022 Feb 28
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Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquiere B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. Genet Med. 2022 Apr; 24 (4):894-904 Epub 2022 Jan 15
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Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S, Bademci G, Tekin M. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022 Apr; 10 (4):e1892 Epub 2022 Mar 05
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Kohler JN, Glanton E, Boyd BM, Sillari CH, Marwaha S, Wheeler MT. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. J Genet Couns. 2022 Apr; 31 (2):326-337 Epub 2021 Aug 10
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Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, Garcia Cazorla MA, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Mar; 43 (3):403-419 Epub 2022 Jan 12
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McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS, Hooper SR, Shashi V. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns. 2022 Feb; 31 (1):59-70 Epub 2021 June 11
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De Graef D, Mousa J, Waberski MB, Morava E. Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature. Ther Adv Rare Dis. 2022 Jan-Dec; 3:26330040221091283 Epub 2022 Apr 17
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Salinas-Marin R, Murakami Y, Gonzalez-Dominguez CA, Cruz-Munoz ME, Mora-Montes HM, Morava E, Kinoshita T, Monroy-Santoyo S, Martinez-Duncker I. Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon. Front Genet. 2022; 13:971473 Epub 2022 Oct 17
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Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquiere B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol. 2021 Dec; 90 (6):887-900 Epub 2021 Oct 26
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Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Dec; 23 (12):2467
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Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupre T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodriguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021 Nov 4; 108 (11):2130-2144 Epub 2021 Oct 14
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Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskar KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Ann Clin Transl Neurol. 2021 Nov; 8 (11):2155-2165 Epub 2021 Oct 18
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Habash N, Wang Y, Morava E, Ibrahim SH. An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis. JPGN Rep. 2021 Nov; 2 (4):e137 Epub 2021 Nov 08
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Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P. Genotype-Phenotype Correlations in PMM2-CDG. Genes (Basel). 2021 Oct 21; 12 (11)
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Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct; 23 (10):2016
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Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct; 23 (10):1922-1932 Epub 2021 June 23
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Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klockner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Oct; 23 (10):1889-1900 Epub 2021 June 10
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Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogne B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O, Wangler MF, Yamamoto S, Bellen HJ, Tan QK, Undiagnosed Diseases Network. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 Sep 2; 108 (9):1669-1691 Epub 2021 July 26
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Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K. A new D-galactose treatment monitoring index for PGM1-CDG. J Inherit Metab Dis. 2021 Sep; 44 (5):1263-1271 Epub 2021 June 22
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Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Mol Genet Metab. 2021 Aug; 133 (4):397-399 Epub 2021 June 11
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Emmerzaal TL, Nijkamp G, Veldic M, Rahman S, Andreazza AC, Morava E, Rodenburg RJ, Kozicz T. Effect of neuropsychiatric medications on mitochondrial function: For better or for worse. Neurosci Biobehav Rev. 2021 Aug; 127:555-571 Epub 2021 May 15
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Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiss S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 Aug; 23 (8):1465-1473 Epub 2021 Apr 08
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Muthusamy K, Boyer S, Patterson M, Bierau J, Wortmann S, Morava E. Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency. Neurology. 2021 Jul 06; 97(1):e109-e110. Epub 2021 Feb 16.
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Smith RS, Florio M, Akula SK, Neil JE, Wang Y, Hill RS, Goldman M, Mullally CD, Reed N, Bello-Espinosa L, Flores-Sarnat L, Monteiro FP, Erasmo CB, Pinto E Vairo F, Morava E, Barkovich AJ, Gonzalez-Heydrich J, Brownstein CA, McCarroll SA, Walsh CA. Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development. Proc Natl Acad Sci U S A. 2021 Jun 22; 118 (25)
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Tengeler AC, Emmerzaal TL, Geenen B, Verweij V, van Bodegom M, Morava E, Kiliaan AJ, Kozicz T. Early-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice. Sci Rep. 2021 Jun 18; 11 (1):12875 Epub 2021 June 18
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Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet. 2021 Jun 3; 108 (6):1151-1160 Epub 2021 May 11
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Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 May 7; 16 (1):206 Epub 2021 May 07
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Emmerzaal TL, Jacobs L, Geenen B, Verweij V, Morava E, Rodenburg RJ, Kozicz T. Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial function. Eur J Neurosci. 2021 May; 53 (9):2986-3001 Epub 2020 July 21
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Preston G, Emmerzaal T, Radenkovic S, Lanza IR, Oglesbee D, Morava E, Kozicz T. Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice. Neurobiol Stress. 2021 May; 14:100300 Epub 2021 Jan 23
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Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Apr; 23 (4):740-750 Epub 2020 Nov 26
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Studwell CM, Glanton E, Sinsheimer JS, Palmer CGS, LeBlanc K. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. J Genet Couns. 2021 Apr; 30 (2):439-447 Epub 2020 Oct 27
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Radio FC, Pang K, Ciolfi A, Levy MA, Hernandez-Garcia A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 Mar 4; 108 (3):502-516 Epub 2021 Feb 16
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Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23(3):498-507. Epub 2020 Nov 04.
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Berry GT, Freeze HH, Morava E. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Epilepsia 2021 Feb; 62 (2):335-336 Epub 2021 Feb 11
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Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk OL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Kury S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Moller RS, Scheffer IE. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med. 2021 Feb; 23 (2):363-373 Epub 2020 Nov 04
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Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2021 Feb; 23 (2):259-271 Epub 2020 Oct 23
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Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E. Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. Orphanet J Rare Dis. 2021 Jan 07; 16(1):20.
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Donoghue SE, White SM, Tan TY, Kowalski R, Morava E, Yaplito-Lee J. Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy. JIMD Rep. 2021 Jan; 57 (1):29-37 Epub 2020 Oct 19
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Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021 Jan; 44 (1):148-163 Epub 2020 Sept 15
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Bayat A, Pendziwiat M, Obersztyn E, Goldenberg P, Zacher P, Doring JH, Syrbe S, Begtrup A, Borovikov A, Sharkov A, Karasinska A, Gizewska M, Mitchell W, Morava E, Moller RS, Rubboli G. Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures. Front Genet. 2021; 12:663643 Epub 2021 May 11
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Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. Mol Genet Metab. 2021 Jan; 132 (1):27-37 Epub 2020 Oct 17
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Muthusamy K, Hanna C, Johnson DR, Cramer CH, Tebben PJ, Libi SE, Poling GL, Lanpher BC, Morava E, Schimmenti LA. Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. Am J Med Genet A. 2021 Jan; 185 (1):261-266 Epub 2020 Oct 24
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Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Rios-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. Hepatology. 2020 Dec; 72 (6):1968-1986
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Ferrer A, Starosta RT, Ranatunga W, Ungar D, Kozicz T, Klee E, Rust LM, Wick M, Morava E. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype. Mol Genet Metab. 2020 Dec; 131 (4):424-429 Epub 2020 Nov 07
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Meissner LE, Macnamara EF, D'Souza P, Yang J, Vezina G, Ferreira CR, Zein WM, Tifft CJ, Adams DR. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Mol Genet Genomic Med. 2020 Dec; 8 (12):e1544 Epub 2020 Nov 07
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Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG). Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 Nov; 43 (6):1333-1348 Epub 2020 Aug 05
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Qian Z, Van den Eynde J, Heymans S, Mertens L, Morava E. Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature. JIMD Rep. 2020 Nov; 56 (1):27-33 Epub 2020 Aug 19
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Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, Crushell E, Al-Gazali L, de Vries MC, Morkrid L, Hertecant J, Brocke Holmefjord KS, Kronn D, Feigenbaum A, Fingerhut R, Wong SY, van Scherpenzeel M, Voermans NC, Lefeber DJ. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol Genet Metab. 2020 Sep - Oct; 131 (1-2):135-146 Epub 2020 Sept 17
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Schneeberger PE, Kortum F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodriguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Gelb BD, Kurth I, Hempel M, Kutsche K. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020 Aug 1; 143 (8):2437-2453
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Lefever E, Witters P, Gielen E, Vanclooster A, Meersseman W, Morava E, Cassiman D, Laurent MR. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates. J Clin Densitom. 2020 Jul - Sep; 23 (3):340-348 Epub 2018 Dec 21
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Starosta RT, Tarnowski J, Vairo FPE, Pinto E Vairo F, Raymond K, Preston G, Morava E. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. Eur J Med Genet. 2020 Jul; 63 (7):103941 Epub 2020 May 11
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Vaes L, Tiller GE, Perez B, Boyer SW, Berry SA, Sarafoglou K, Morava E. PMM2-CDG caused by uniparental disomy: Case report and literature review. JIMD Rep. 2020 Jul; 54 (1):16-21 Epub 2020 Apr 28
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Cechova A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawlinski L, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzik T. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. J Inherit Metab Dis. 2020 Jul; 43 (4):671-693 Epub 2020 Apr 21
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Preston G, Emmerzaal T, Kirdar F, Schrader L, Henckens M, Morava E, Kozicz T. Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male mice. Brain Behav Immun Health. 2020 Jul; 6:100104 Epub 2020 July 08
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Krzysciak W, Papiez M, Bak E, Morava E, Krzysciak P, Ligezka A, Gniadek A, Vyhouskaya P, Janeczko J. Sperm Antioxidant Biomarkers and Their Correlation with Clinical Condition and Lifestyle with Regard to Male Reproductive Potential. J Clin Med. 2020 Jun 8; 9 (6) Epub 2020 June 08
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Emmerzaal TL, Preston G, Geenen B, Verweij V, Wiesmann M, Vasileiou E, Gruter F, de Groot C, Schoorl J, de Veer R, Roelofs M, Arts M, Hendriksen Y, Klimars E, Donti TR, Graham BH, Morava E, Rodenburg RJ, Kozicz T. Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice. Transl Psychiatry. 2020 Jun 1; 10 (1):176 Epub 2020 June 01
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Witters P, Tahata S, Barone R, Ounap K, Salvarinova R, Gronborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 Jun; 22 (6):1102-1107 Epub 2020 Feb 27
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van Rijt WJ, Jager EA, Allersma DP, Aktuglu Zeybek AC, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Burgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genet Med. 2020 May; 22 (5):908-916 Epub 2020 Jan 06
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Wilton KM, Morales-Rosado JA, Selcen D, Muthusamy K, Ewing S, Agre K, Nickels K, Klee EW, Ho ML, Morava E. Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1. JIMD Rep. 2020 May; 53 (1):22-28 Epub 2020 Mar 20
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Morava E. Elevated sorbitol underlies a heritable neuropathy. Nat Genet 2020 May; 52 (5):469-470
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Klein Gunnewiek TM, Van Hugte EJH, Frega M, Guardia GS, Foreman K, Panneman D, Mossink B, Linda K, Keller JM, Schubert D, Cassiman D, Rodenburg R, Vidal Folch N, Oglesbee D, Perales-Clemente E, Nelson TJ, Morava E, Nadif Kasri N, Kozicz T. m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity. Cell Rep. 2020 Apr 21; 31 (3):107538
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Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Kury S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 Apr 2; 106 (4):570-583 Epub 2020 Mar 19
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Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. Eur J Med Genet. 2020 Apr; 63 (4):103850 Epub 2020 Jan 16
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Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol 2020 Mar; 145 (3):1008-1011 Epub 2019 Nov 24
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Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020 Feb; 22 (2):268-279 Epub 2019 Sept 19
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Moravej H, Altassan R, Jaeken J, Enns GM, Ellaway C, Balasubramaniam S, De Lonlay P, Coman D, Mercimek-Andrews S, Witters P, Morava E. Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients. JIMD Rep. 2020 Jan; 51 (1):76-81 Epub 2019 Nov 25
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Tahata S, Gunderson L, Lanpher B, Morava E. Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature. Mol Genet Metab. 2019 Dec; 128 (4):409-414 Epub 2019 Aug 26
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Iyer S, Sam FS, DiPrimio N, Preston G, Verheijen J, Murthy K, Parton Z, Tsang H, Lao J, Morava E, Perlstein EO. Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG. Dis Model Mech. 2019 Nov 11; 12 (11)
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Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A, Worthey EA. VarSight: prioritizing clinically reported variants with binary classification algorithms. BMC Bioinformatics. 2019 Oct 15; 20 (1):496
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Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 5; 105 (3):672-674
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Balakrishnan B, Verheijen J, Lupo A, Raymond K, Turgeon C, Yang Y, Carter KL, Whitehead KJ, Kozicz T, Morava E, Lai K. A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality. J Inherit Metab Dis. 2019 Sep; 42 (5):998-1007 Epub 2019 June 21
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Hill LA, Sumer-Bayraktar Z, Lewis JG, Morava E, Thaysen-Andersen M, Hammond GL. N-Glycosylation influences human corticosteroid-binding globulin measurements. Endocr Connect. 2019 Aug; 8 (8):1136-1148
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Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug; 40 (8):1115-1126 Epub 2019 May 05
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van den Boogert MAW, Larsen LE, Ali L, Kuil SD, Chong PLW, Loregger A, Kroon J, Schnitzler JG, Schimmel AWM, Peter J, Levels JHM, Steenbergen G, Morava E, Dallinga-Thie GM, Wevers RA, Kuivenhoven JA, Hand NJ, Zelcer N, Rader DJ, Stroes ESG, Lefeber DJ, Holleboom AG. N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression. Circulation. 2019 Jul 23; 140 (4):280-292 Epub 2019 May 23
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Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. Am J Hum Genet. 2019 May 02; 104(5):835-846. Epub 2019 Apr 11.
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Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. Clin Chem. 2019 May; 65 (5):653-663 Epub 2019 Feb 15
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Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials? Genet Med. 2019 May; 21 (5):1181-1188 Epub 2018 Oct 08
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Boon L, Ugarte-Berzal E, Martens E, Vandooren J, Rybakin V, Colau D, Gordon-Alonso M, van der Bruggen P, Stocker W, Becker-Pauly C, Witters P, Morava E, Jaeken J, Proost P, Opdenakker G. Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase B. FEBS J. 2019 Mar; 286 (5):930-945 Epub 2018 Nov 30
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Blacker CJ, Frye MA, Morava E, Kozicz T, Veldic M. A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions. Genes (Basel). 2019 Feb 13; 10 (2)
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Altassan R, Peanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grunewald S, Hernandez-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Ounap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 Jan; 42 (1):5-28
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Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, Jaeken J. The challenge of CDG diagnosis. Mol Genet Metab. 2019 Jan; 126 (1):1-5 Epub 2018 Nov 09
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Duvet S, Mouajjah D, Peanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F. Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. Electrophoresis. 2018 Dec; 39 (24):3133-3141 Epub 2018 Aug 02
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Radenkovic S, Witters P, Morava E. Central nervous involvement is common in PGM1-CDG. Mol Genet Metab. 2018 Nov; 125(3):200-204. Epub 2018 Aug 21.
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Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MOrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ. Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency. Transl Res. 2018 Sep; 199:62-76 Epub 2018 May 10
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Kozicz T, Schene A, Morava E. Mitochondrial Etiology of Psychiatric Disorders: Is This the Full Story? JAMA Psychiatry 2018 May 1; 75 (5):527
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Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis. 2018 May; 41 (3):541-553 Epub 2018 Apr 13
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Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V. CDG Therapies: From Bench to Bedside. Int J Mol Sci. 2018 Apr 27; 19 (5)
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Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rotig A, Wevers RA, Metodiev MD, Morava E. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. Am J Hum Genet. 2018 Apr 5; 102 (4):685-695 Epub 2018 Mar 22
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Gardeitchik T, Wyckmans J, Morava E. Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders. Pediatr Clin North Am. 2018 Apr; 65 (2):375-388
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Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, Goldstein A, Morava E. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med. 2018 Apr; 20 (4):444-451 Epub 2017 Oct 26
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Altassan R, Witters P, Saifudeen Z, Quelhas D, Jaeken J, Levtchenko E, Cassiman D, Morava E. Renal involvement in PMM2-CDG, a mini-review. Mol Genet Metab. 2018 Mar; 123 (3):292-296 Epub 2017 Nov 28
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Francisco R, Pascoal C, Marques-da-Silva D, Morava E, Gole GA, Coman D, Jaeken J, Dos Reis Ferreira V. Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. J Inherit Metab Dis. 2018 Feb 1 Epub 2018 Feb 01
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Althonaian N, Alsultan A, Morava E, Alfadhel M. Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. JIMD Rep. 2018; 42:105-111 Epub 2018 Feb 15
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Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Baric I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Horster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017 Dec; 82 (6):1004-1015
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Witters P, Cassiman D, Morava E. Nutritional Therapies in Congenital Disorders of Glycosylation (CDG). Nutrients. 2017 Nov 7; 9 (11) Epub 2017 Nov 07
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Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Oral D-galactose supplementation in PGM1-CDG. Genet Med. 2017 Nov; 19 (11):1226-1235 Epub 2017 June 15
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Peanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Perez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet. 2017 Oct 25 [Epub ahead of print]
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Gadomski TE, Bolton M, Alfadhel M, Dvorak C, Ogunsakin OA, Nelson SL, Morava E. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing. Am J Med Genet A. 2017 Oct; 173 (10):2772-2775 Epub 2017 Aug 04
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de Freitas C, Dos Reis V, Silva S, Videira PA, Morava E, Jaeken J. Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation. BMC Health Serv Res. 2017 Sep 26; 17 (1):682 Epub 2017 Sept 26
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Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. J Inherit Metab Dis. 2017 Sep; 40 (5):745-747 Epub 2017 Apr 13
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Van Hoeve K, Mekahli D, Morava E, Levtchenko E, Witters P. Liver involvement in kidney disease and vice versa. Pediatr Nephrol. 2017 Jun 23 Epub 2017 June 23
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Vals MA, Morava E, Teeaar K, Zordania R, Pajusalu S, Lefeber DJ, Ounap K. Three families with mild PMM2-CDG and normal cognitive development. Am J Med Genet A. 2017 Jun; 173 (6):1620-1624 Epub 2017 Apr 19
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Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ. Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. Birth Defects Res. 2017 Jun 1; 109 (10):791-804 Epub 2017 May 16
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Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 May 12 [Epub ahead of print]
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Morelle W, Potelle S, Witters P, Wong S, Climer L, Lupashin V, Matthijs G, Gadomski T, Jaeken J, Cassiman D, Morava E, Foulquier F. Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects. J Clin Endocrinol Metab. 2017 Apr 1; 102 (4):1375-1386
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Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. Int J Mol Sci. 2017 Mar 15; 18 (3)
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Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet. 2017 Feb 2; 100 (2):216-227 Epub 2017 Jan 05
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Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E. False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. JIMD Rep. 2017; 36:1-5 Epub 2017 Jan 12
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Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E. Autism in patients with propionic acidemia. Mol Genet Metab. 2016 Dec; 119 (4):317-321 Epub 2016 Oct 31
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Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. J Inherit Metab Dis. 2016 Sep; 39 (5):713-723 Epub 2016 June 10
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Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. J Inherit Metab Dis. 2016 Sep; 39 (5):759
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Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 Aug 4; 99 (2):392-406 Epub 2016 July 15
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Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. J Pediatr. 2016 Aug; 175:130-136.e8 Epub 2016 May 17
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Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Muller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun. 2016 May 27; 7:11600
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Manoli I, Myles JG, Sloan JL, Carrillo-Carrasco N, Morava E, Strauss KA, Morton H, Venditti CP. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. Genet Med. 2016 Apr; 18 (4):396-404 Epub 2015 Aug 13
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Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. Am J Hum Genet. 2016 Feb 4; 98 (2):322-30 Epub 2016 Jan 28
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Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet. 2016 Feb 4; 98 (2):310-21 Epub 2016 Jan 28
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Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Orphanet J Rare Dis. 2016 Jan 25; 11:7
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Rahman S, Baumgartner MR, Morava E, Patterson M, Peters V, Zschocke J. Peer review fraud-it's not big and it's not clever. J Inherit Metab Dis 2016 Jan; 39 (1):1-2 Epub 2015 Dec 11
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Barends M, Verschuren L, Morava E, Nesbitt V, Turnbull D, McFarland R. Causes of Death in Adults with Mitochondrial Disease. JIMD Rep. 2016; 26:103-13 Epub 2015 Sept 10
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van Scherpenzeel M, Steenbergen G, Morava E, Wevers RA, Lefeber DJ. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. Transl Res. 2015 Dec; 166 (6):639-649.e1 Epub 2015 Aug 08
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Barthelemy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Levy N, Bartoli M, De Sandre-Giovannoli A. Truncated prelamin A expression in HGPS-like patients: a transcriptional study. Eur J Hum Genet. 2015 Aug; 23 (8):1051-61 Epub 2015 Feb 04
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Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoglu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanovic V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015 May; 38 (3):417-26 Epub 2014 Oct 18
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Danhauser K, Smeitink JA, Freisinger P, Sperl W, Sabir H, Hadzik B, Mayatepek E, Morava E, Distelmaier F. Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. J Inherit Metab Dis. 2015 May; 38 (3):467-75 Epub 2015 Feb 17
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Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoglu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanovic V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Erratum to: TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015 May; 38 (3):583-4
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Wortmann SB, van Hasselt PM, Baric I, Burlina A, Darin N, Horster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. Neuropediatrics. 2015 Apr; 46 (2):98-103 Epub 2015 Feb 02
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Huigen MC, van der Graaf M, Morava E, Dassel AC, van Steensel MA, Seyger MM, Wevers RA, Willemsen MA. Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. Mol Genet Metab. 2015 Jan; 114 (1):51-4 Epub 2014 Nov 04
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Fischer B, Callewaert B, Schroter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Mol Genet Metab. 2014 Aug; 112 (4):310-6 Epub 2014 May 21
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Morava E. Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG. Mol Genet Metab. 2014 Aug; 112 (4):275-9 Epub 2014 June 21
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Scott K, Gadomski T, Kozicz T, Morava E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014 Jul; 37 (4):609-17 Epub 2014 May 15
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Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Haberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leao M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet. 2014 Jul; 22 (7):888-95 Epub 2013 Aug 21
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van Asbeck E, Ramalingam A, Dvorak C, Chen TJ, Morava E. Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. Clin Dysmorphol. 2014 Jul; 23 (3):77-82
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Wolthuis DF, van Asbeck E, Mohamed M, Gardeitchik T, Lim-Melia ER, Wevers RA, Morava E. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. Eur J Paediatr Neurol. 2014 Jul; 18 (4):511-5 Epub 2014 Feb 28
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Janssen MC, de Kleine RH, van den Berg AP, Heijdra Y, van Scherpenzeel M, Lefeber DJ, Morava E. Successful liver transplantation and long-term follow-up in a patient with MPI-CDG. Pediatrics. 2014 Jul; 134 (1):e279-83
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Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafe L, Baumgartner MR, Anikster Y, Braverman NE, Brunetti-Pierri N. Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. Ann Clin Transl Neurol. 2014 Jul; 1 (7):462-70 Epub 2014 June 19
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van de Ven S, Gardeitchik T, Kouwenberg D, Kluijtmans L, Wevers R, Morava E. Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. J Inherit Metab Dis. 2014 May; 37 (3):383-90 Epub 2013 Oct 31
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Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Gronborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain. 2014 Apr; 137 (Pt 4):1030-8 Epub 2014 Feb 24
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Van Asbeck E, Wolthuis DF, Mohamed M, Wevers RA, Korenke CG, Gardeitchik T, Morava E. A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. Am J Med Genet A. 2014 Apr; 164A (4):1049-55 Epub 2014 Jan 23
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Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry. 2014 Mar; 85 (3):257-65 Epub 2013 June 14
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Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation. Expert Rev Mol Diagn. 2014 Mar; 14 (2):217-24 Epub 2014 Feb 13
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Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014 Feb 6; 370 (6):533-42
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Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava E, Mayatepek E, Kohlhase J, Karenfort M. Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. JIMD Rep. 2014; 13:53-7 Epub 2013 Oct 29
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Mohamed M, Voet M, Gardeitchik T, Morava E. Cutis Laxa. Adv Exp Med Biol. 2014; 802:161-84
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Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E. Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. Pediatr Dermatol. 2014 Jan-Feb; 31 (1):e1-5
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Wortmann SB, Kluijtmans LA, Sequeira S, Wevers RA, Morava E. Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. JIMD Rep. 2014; 16:1-6 Epub 2014 Apr 23
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Dimopoulou A, Fischer B, Gardeitchik T, Schroter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab. 2013 Nov; 110 (3):352-61 Epub 2013 Aug 24
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Wolthuis DF, van Asbeck EV, Kozicz T, Morava E. Abnormal fat distribution in PMM2-CDG. Mol Genet Metab. 2013 Nov; 110 (3):411-3 Epub 2013 Sept 07
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Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov; 36 (6):923-8 Epub 2013 Jan 08
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Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis. 2013 Nov; 36 (6):913-21 Epub 2013 Jan 25
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Mohamed M, Ashikov A, Guillard M, Robben JH, Schmidt S, van den Heuvel B, de Brouwer AP, Gerardy-Schahn R, Deen PM, Wevers RA, Lefeber DJ, Morava E. Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport. Neurology. 2013 Aug 13; 81 (7):681-7 Epub 2013 July 19
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Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Symptomatic lipid storage in carriers for the PNPLA2 gene. Eur J Hum Genet. 2013 Aug; 21 (8):807-15 Epub 2012 Dec 12
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Thomeer HG, Morava E, Verbist BM, Cremers CW. Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation. Int J Pediatr Otorhinolaryngol. 2013 Jul; 77 (7):1152-7 Epub 2013 May 31
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Morava E, Kozicz T. Mitochondria and the economy of stress (mal)adaptation. Neurosci Biobehav Rev. 2013 May; 37 (4):668-80 Epub 2013 Feb 13
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Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E. Thrombotic complications in patients with PMM2-CDG. Mol Genet Metab. 2013 May; 109 (1):107-11 Epub 2013 Feb 16
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Zulfiqar M, Lin DD, Van der Graaf M, Barker PB, Fahrner JA, Marie S, Morava E, De Boer L, Willemsen MA, Vining E, Horska A, Engelke U, Wevers RA, Maegawa GH. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. J Magn Reson Imaging. 2013 Apr; 37 (4):974-80 Epub 2012 Oct 10
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Kapusta L, Zucker N, Frenckel G, Medalion B, Ben Gal T, Birk E, Mandel H, Nasser N, Morgenstern S, Zuckermann A, Lefeber DJ, de Brouwer A, Wevers RA, Lorber A, Morava E. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev. 2013 Mar; 18 (2):187-96
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Horvers M, Anttonen AK, Lehesjoki AE, Morava E, Wortmann S, Vermeer S, van de Warrenburg BP, Willemsen MA. Marinesco-Sjogren syndrome due to SIL1 mutations with a comment on the clinical phenotype. Eur J Paediatr Neurol. 2013 Mar; 17 (2):199-203 Epub 2012 Oct 11
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Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann SB, Korsch E, Adamowicz M, Al-Gazali L, Wevers RA, Horvath A, Lefeber DJ, Morava E. Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A. 2013 Mar; 161A (3):578-84 Epub 2013 Feb 07
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van de Loo KF, van Dongen L, Mohamed M, Gardeitchik T, Kouwenberg TW, Wortmann SB, Rodenburg RJ, Lefeber DJ, Morava E, Verhaak CM. Socio-emotional Problems in Children with CDG. JIMD Rep. 2013; 11:139-48 Epub 2013 June 04
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Koene S, Wortmann SB, de Vries MC, Jonckheere AI, Morava E, de Groot IJ, Smeitink JA. Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents? Mitochondrion. 2013 Jan; 13 (1):15-24 Epub 2012 Nov 17
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de Boer L, Kluijtmans LA, Morava E. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency. JIMD Rep. 2013; 10:39-40 Epub 2012 Dec 29
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Wolfe LA, Morava E, He M, Vockley J, Gibson KM. Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. Am J Med Genet C Semin Med Genet. 2012 Nov 15; 160C (4):322-8 Epub 2012 Oct 11
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Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131 (11):1761-73 Epub 2012 July 08
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Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab. 2012 Nov; 107 (3):526-33 Epub 2012 June 30
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Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? Eur J Med Genet. 2012 Oct; 55 (10):552-6 Epub 2012 July 07
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Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet. 2012 Oct 1; 21 (19):4151-61 Epub 2012 Apr 05
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Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012 Oct; 130 (4):e1034-9 Epub 2012 Sept 10
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Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct; 72 (4):550-8
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Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grunewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Baric I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10; 44 (7):797-802 Epub 2012 June 10
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van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. Cantu syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8; 90 (6):1094-101 Epub 2012 May 17
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Binkhorst M, Wortmann SB, Funke S, Kozicz T, Wevers RA, Morava E. Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini. J Inherit Metab Dis. 2012 May; 35 (3):399-405 Epub 2011 Dec 02
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Mohamed M, Theodore M, Claahsen-van der Grinten H, van Herwaarden AE, Huijben K, van Dongen L, Kouwenberg D, Lefeber DJ, Wevers RA, Morava E. Thyroid function in PMM2-CDG: diagnostic approach and proposed management. Mol Genet Metab. 2012 Apr; 105 (4):681-3 Epub 2012 Feb 13
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Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Haberle J, Kornak U, Brancati F. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J Med Genet A. 2012 Apr; 158A (4):927-31 Epub 2012 Mar 12
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Bloem B, Xu L, Morava E, Faludi G, Palkovits M, Roubos EW, Kozicz T. Sex-specific differences in the dynamics of cocaine- and amphetamine-regulated transcript and nesfatin-1 expressions in the midbrain of depressed suicide victims vs. controls. Neuropharmacology. 2012 Jan; 62 (1):297-303 Epub 2011 July 22
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Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis. 2012 Jan; 35 (1):13-22 Epub 2010 Sept 30
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van Beynum I, Morava E, Taher M, Rodenburg RJ, Karteszi J, Toth K, Szabados E. Cardiac arrest in kearns-sayre syndrome. JIMD Rep. 2012; 2:7-10 Epub 2011 Sept 06
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Verstegen RH, Theodore M, van de Klerk H, Morava E. Lymphatic edema in congenital disorders of glycosylation. JIMD Rep. 2012; 4:113-6 Epub 2011 Oct 20
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Holleboom AG, Karlsson H, Lin RS, Beres TM, Sierts JA, Herman DS, Stroes ES, Aerts JM, Kastelein JJ, Motazacker MM, Dallinga-Thie GM, Levels JH, Zwinderman AH, Seidman JG, Seidman CE, Ljunggren S, Lefeber DJ, Morava E, Wevers RA, Fritz TA, Tabak LA, Lindahl M, Hovingh GK, Kuivenhoven JA. Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab. 2011 Dec 7; 14 (6):811-8
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Achouitar S, Goldstein JL, Mohamed M, Austin S, Boyette K, Blanpain FM, Rehder CW, Kishnani PS, Wortmann SB, den Heijer M, Lefeber DJ, Wevers RA, Bali DS, Morava E. Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Mol Genet Metab. 2011 Dec; 104 (4):691-4 Epub 2011 Aug 26
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Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. J Pediatr. 2011 Dec; 159 (6):1041-3.e2 Epub 2011 Sept 13
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Theodore M, Morava E. Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr. 2011 Dec; 23 (6):581-7
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Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grunewald S, Lehle L, Kapusta L, Mandel H, Wevers RA. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 2011 Dec; 7 (12):e1002427 Epub 2011 Dec 29
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Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I. J Inherit Metab Dis. 2011 Aug; 34 (4):901-6 Epub 2011 Mar 23
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Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa syndromes. J Inherit Metab Dis. 2011 Aug; 34 (4):907-16 Epub 2011 Mar 23
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Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Ounap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grunewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis. 2011 Aug; 34 (4):923-7 Epub 2011 May 04
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Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta. 2011 Jun; 1812 (6):691-8 Epub 2011 Mar 17
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van den Broek L, Backx AP, Coolen H, Wijburg FA, Wevers R, Morava E, Neeleman C. Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I. Pediatrics. 2011 May; 127 (5):e1343-6 Epub 2011 Apr 04
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Guillard M, Morava E, van Delft FL, Hague R, Korner C, Adamowicz M, Wevers RA, Lefeber DJ. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem. 2011 Apr; 57 (4):593-602 Epub 2011 Jan 27
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Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L. Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol. 2011 Apr; 20 (2):77-81
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Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. Eur J Hum Genet. 2011 Feb; 19 (2):138-44 Epub 2010 Nov 10
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Morava E, Kuhnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-van der Grinten HL, O'Neill CW, Willemsen MA, Lefeber D, Deen PM, Kornak U, Kremer H, Wevers RA. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab. 2011 Jan; 96 (1):E189-98 Epub 2010 Oct 13
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Schreuder LT, Nijhuis-van der Sanden MW, de Hair A, Peters G, Wortmann S, Bok LA, Morava E. Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S205-9 Epub 2010 May 05
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Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochim Biophys Acta. 2010 Nov; 1802 (11):1028-35 Epub 2010 June 18
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Albrecht B, de Brouwer AP, Lefeber DJ, Cremer K, Hausser I, Rossen N, Wortmann SB, Wevers RA, Kornak U, Morava E. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. Am J Med Genet A. 2010 Nov; 152A (11):2916-8
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Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Korner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov; 133 (11):3210-20 Epub 2010 Sept 17
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Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15; 330 (6002):336 Epub 2010 Sept 16
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Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21; 75 (12):1079-83
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Morava E, Gardeitchik T, Kozicz T, de Boer L, Koene S, de Vries MC, McFarland R, Roobol T, Rodenburg RJ, Verhaak CM. Depressive behaviour in children diagnosed with a mitochondrial disorder. Mitochondrion. 2010 Aug; 10 (5):528-33 Epub 2010 May 31
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Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blumel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23; 142 (2):203-17 Epub 2010 July 15
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Schreuder L, Peters G, Nijhuis-van der Sanden R, Morava E. Aerobic exercise in children with oxidative phosphorylation defects. Neurol Int. 2010 Jun 21; 2 (1):e4 Epub 2010 June 21
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Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L. Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet. 2010 Mar; 18 (3):324-9 Epub 2009 Oct 07
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Tassini M, Zannolli R, Buoni S, Engelke U, Vivi A, Valensin G, Salomons GS, De Nicola A, Strambi M, Monti L, Morava E, Wevers RA, Hayek J. [(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case. J Child Neurol. 2010 Jan; 25 (1):98-101 Epub 2009 May 21
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Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S307-11 Epub 2009 Nov 04
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Morava E, Steuerwald U, Carrozzo R, Kluijtmans LA, Joensen F, Santer R, Dionisi-Vici C, Wevers RA. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion. 2009 Nov; 9 (6):438-42 Epub 2009 Aug 08
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Horster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gokcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grunewald S, Baumgartner MR, Kolker S. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009 Oct; 32 (5):630 Epub 2009 July 31
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Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta. 2009 Sep; 1792 (9):903-14 Epub 2009 Jan 08
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Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep; 17 (9):1099-110 Epub 2009 Apr 29
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Guillard M, Gloerich J, Wessels HJ, Morava E, Wevers RA, Lefeber DJ. Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry. Carbohydr Res. 2009 Aug 17; 344 (12):1550-7 Epub 2009 June 16
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Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet. 2009 Jul; 85 (1):76-86 Epub 2009 July 02
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Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Turkmen S, Tuysuz B, Yuksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet. 2009 Jun 15; 18 (12):2149-65 Epub 2009 Mar 25
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Engelke UF, Tassini M, Hayek J, de Vries M, Bilos A, Vivi A, Valensin G, Buoni S, Zannolli R, Brussel W, Kremer B, Salomons GS, Veendrick-Meekes MJ, Kluijtmans LA, Morava E, Wevers RA. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. NMR Biomed. 2009 Jun; 22 (5):538-44
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Koene S, Kozicz TL, Rodenburg RJ, Verhaak CM, de Vries MC, Wortmann S, van de Heuvel L, Smeitink JA, Morava E. Major depression in adolescent children consecutively diagnosed with mitochondrial disorder. J Affect Disord. 2009 Apr; 114 (1-3):327-32 Epub 2008 Aug 09
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Morava E, Wosik HN, Sykut-Cegielska J, Adamowicz M, Guillard M, Wevers RA, Lefeber DJ, Cruysberg JR. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol. 2009 Mar; 93 (3):350-4 Epub 2008 Nov 19
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Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E. Decreased bone density and treatment in patients with autosomal recessive cutis laxa. Acta Paediatr. 2009 Mar; 98 (3):490-4 Epub 2008 Dec 04
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Bonthuis D, Morava E, Booij LH, Driessen JJ. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. Paediatr Anaesth. 2009 Mar; 19 (3):212-7 Epub 2008 Dec 30
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Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain. 2009 Jan; 132 (Pt 1):136-46 Epub 2008 Nov 16
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Wortmann SB, Zweers-van Essen H, Rodenburg RJ, van den Heuvel LP, de Vries MC, Rasmussen-Conrad E, Smeitink JA, Morava E. Mitochondrial energy production correlates with the age-related BMI. Pediatr Res. 2009 Jan; 65 (1):103-8
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de Vries MC, Rodenburg RJ, Morava E, Lammens M, van den Heuvel LP, Korenke GC, Smeitink JA. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. J Inherit Metab Dis. 2008 Dec; 31 Suppl 2:S299-302 Epub 2008 May 20
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Contopoulos-Ioannidis D, Evangeliou A, ter Laak H, de Vries B, Pfundt R, Scheffer H, Smeitink J, Tzoufi M, Makis A, Marinos E, Hess R, Adams D, Huizing M, Morava E. Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. Am J Med Genet A. 2008 Dec 1; 146A (23):3100-3
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Truin G, Guillard M, Lefeber DJ, Sykut-Cegielska J, Adamowicz M, Hoppenreijs E, Sengers RC, Wevers RA, Morava E. Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab. 2008 Aug; 94 (4):481-4 Epub 2008 June 20
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Koene S, Kluijtmans LA, Wevers R, Mock D, Pasch M, Morava E. Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay. Clin Dysmorphol. 2008 Jul; 17 (3):195-8
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Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gokcay G, Grunewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Muller E, Kolker S, Horster F. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008 Jun; 31 (3):361-7 Epub 2008 May 27
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Morava E, Wosik H, Karteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. J Inherit Metab Dis. 2008 Jun; 31 (3):450-6 Epub 2008 May 20
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Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 May; 29 (5):670-8
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Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. Ann Neurol. 2008 Apr; 63 (4):473-81
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Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 Jan; 16 (1):28-35 Epub 2007 Oct 31
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Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S, ARCL Debre-type Study Group. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan; 40 (1):32-4 Epub 2007 Dec 23
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Funke S, Morava E, Czako M, Vida G, Ertl T, Kosztolanyi G. [Metabolic bone disease in premature infants and genetic polymorphisms]. Orv Hetil. 2007 Oct 14; 148 (41):1957-65
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Vermeer S, Kremer HP, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NA, Morava E, Lefeber DJ. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. J Neurol. 2007 Oct; 254 (10):1356-8 Epub 2007 Aug 15
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Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). J Inherit Metab Dis. 2007 Oct; 30 (5):811 Epub 2007 Sept 04
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Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C. Null mutations and lethal congenital form of glycogen storage disease type IV. Biochem Biophys Res Commun. 2007 Sep 21; 361 (2):445-50 Epub 2007 July 24
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van de Glind G, de Vries M, Rodenburg R, Hol F, Smeitink J, Morava E. Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. Eur J Paediatr Neurol. 2007 Jul; 11 (4):243-6 Epub 2007 Feb 12
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Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet. 2007 Jun; 15 (6):638-45 Epub 2007 Mar 14
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Adamowicz M, Ploski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E. Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. J Inherit Metab Dis. 2007 Jun; 30 (3):407 Epub 2007 Apr 24
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Morava E, Bongers EM, Kress W, Sie L, Rodenburg R, van den Heuvel L, Brunner HG. Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome. Clin Dysmorphol. 2007 Apr; 16 (2):131-4
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de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr. 2007 Mar; 166 (3):229-34 Epub 2006 Sept 07
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Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar; 130 (Pt 3):862-74 Epub 2007 Feb 14
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Wortmann SB, Rodenburg RJ, Backx AP, Schmitt E, Smeitink JA, Morava E. Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr. 2007 Mar; 96 (3):450-1
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Wopereis S, Grunewald S, Huijben KM, Morava E, Mollicone R, van Engelen BG, Lefeber DJ, Wevers RA. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clin Chem. 2007 Feb; 53 (2):180-7 Epub 2006 Dec 14
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Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007 Jan; 39 (1):28-30 Epub 2006 Dec 24
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Wortmann SB, Rodenburg R, Schwahn B, Smeitink JA, Morava E. Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. Genet Couns. 2007; 18 (1):119-23
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Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord. 2006 Dec; 16 (12):814-20 Epub 2006 Nov 22
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Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006 Nov 28; 67 (10):1823-6
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Funke S, Morava E, Czako M, Vida G, Ertl T, Kosztolanyi G. Influence of genetic polymorphisms on bone disease of preterm infants. Pediatr Res. 2006 Nov; 60 (5):607-12 Epub 2006 Sept 20
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Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L, Wakeling E, Blair E, Morava E, Monaco AP, Ragoussis J. Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat. 2006 Nov; 27 (11):1160
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Morava E, Hamel B, Hol F, Rodenburg R, Smeitink J. Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation. Am J Med Genet A. 2006 Oct 15; 140 (20):2248-50
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Teszas A, Pfund Z, Morava E, Kosztolanyi G, Sistermans E, Wevers RA, Kellermayer R. Presenile cataract: consider cholestanol. Arch Ophthalmol. 2006 Oct; 124 (10):1490-2
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Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J. Dietary intervention and oxidative phosphorylation capacity. J Inherit Metab Dis. 2006 Aug; 29 (4):589 Epub 2006 June 19
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Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E. Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion. 2006 Jun; 6 (3):155-9 Epub 2006 May 19
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Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochim Biophys Acta. 2006 Jun; 1762 (6):598-607
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Pillen S, Morava E, Van Keimpema M, Ter Laak HJ, De Vries MC, Rodenburg RJ, Zwarts MJ. Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system. Neuropediatrics. 2006 Jun; 37 (3):142-7
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Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006 May; 88 (1):47-52 Epub 2006 Mar 09
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Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LT, Ruitenbeek W, Smeitink JA, Morava E, van Engelen BG, van den Heuvel LP, Rodenburg RJ. Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem. 2006 May; 52 (5):860-71 Epub 2006 Mar 16
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Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am J Med Genet A. 2006 Apr 15; 140 (8):863-8
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Morava E, Rodenburg R, Hol F, De Meirleir L, Seneca S, Busch R, van den Heuvel L, Smeitink J. Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. Am J Med Genet A. 2006 Apr 1; 140 (7):752-6
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Wopereis S, Lefeber DJ, Morava E, Wevers RA. Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem. 2006 Apr; 52 (4):574-600 Epub 2006 Feb 23
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Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA. NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr; 19 (2):271-8
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Albahri Z, Marklova E, Dedek P, Hojdikova H, Fiedler Z, Lefeber D, Wevers RA, Morava E, Wopereis S. CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans. Eur J Pediatr. 2006 Mar; 165 (3):203-4 Epub 2006 Jan 14
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Karteszi J, Kosztolanyi G, Czako M, Hadzsiev K, Morava E. Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. Clin Dysmorphol. 2006 Jan; 15 (1):29-31
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Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. Eur J Ophthalmol. 2006 Jan-Feb; 16 (1):190-4
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Morava E, Hogeveen M, De Vries M, Ruitenbeek W, de Boode WP, Smeitink J. Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism. Biol Neonate. 2006; 90 (3):207-9 Epub 2006 May 29
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Wopereis S, Morava E, Grunewald S, Adamowicz M, Huijben KM, Lefeber DJ, Wevers RA. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. Glycobiology. 2005 Dec; 15 (12):1312-9 Epub 2005 July 21
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Tsien F, Morava E, Talarski A, Marble M. Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation. Clin Dysmorphol. 2005 Oct; 14 (4):177-81
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Wopereis S, Morava E, Grunewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochim Biophys Acta. 2005 Jun 30; 1741 (1-2):156-64 Epub 2004 Dec 09
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Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA. Mitochondrial dysfunction in a patient with Joubert syndrome. Neuropediatrics. 2005 Jun; 36 (3):214-7
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Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grunewald S. Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet. 2005 Apr; 13 (4):414-21
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Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. J Inherit Metab Dis. 2005; 28 (5):703-6
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Czako M, Riegel M, Morava E, Bajnoczky K, Kosztolanyi G. Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. Am J Med Genet A. 2004 Dec 15; 131 (3):310-2
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Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2004 Dec; 75 (6):1124-30 Epub 2004 Oct 04
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Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Eur J Pediatr. 2004 Aug; 163 (8):467-71 Epub 2004 May 27
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Morava E, Cser B, Karteszi J, Huijben K, Szonyi L, Kosztolanyi G, Wevers R. Screening for CDG type Ia in Joubert syndrome. Med Sci Monit. 2004 Aug; 10 (8):CR469-72 Epub 2004 July 23
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Karteszi J, Hollody K, Bene J, Morava E, Hadzsiev K, Czako M, Melegh B, Kosztolanyi G. [Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]. Orv Hetil. 2004 Apr 25; 145 (17):909-11
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Engelke UF, Liebrand-van Sambeek ML, de Jong JG, Leroy JG, Morava E, Smeitink JA, Wevers RA. N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism. Clin Chem. 2004 Jan; 50 (1):58-66 Epub 2003 Nov 18
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Morava E, Jackson KE, Tsien F, Marble MR. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies. Genet Couns. 2004; 15 (4):449-53
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Wopereis S, Grunewald S, Morava E, Penzien JM, Briones P, Garcia-Silva MT, Demacker PN, Huijben KM, Wevers RA. Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem. 2003 Nov; 49 (11):1839-45
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Morava E, Czako M, Karteszi J, Cser B, Weissbecker K, Mehes K. Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. Clin Dysmorphol. 2003 Jul; 12 (3):161-5
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Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO, OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr; 33 (4):487-91 Epub 2003 Mar 03
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Morava E, Bartsch O, Czako M, Frensel A, Kalscheuer V, Karteszi J, Kosztolanyi G. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clin Dysmorphol. 2003 Apr; 12 (2):123-7
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Morava E, Illes T, Weisenbach J, Karteszi J, Kosztolanyi G. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A. 2003 Jan 30; 116A (3):272-7
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Morava E, Kosztolanyi G, Engelke UF, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem. 2003 Jan; 40 (Pt 1):108-11
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Morava E, Bartsch O, Czako M, Frensel A, Karteszi J, Kosztolanyi GY. A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion. Genet Couns. 2003; 14 (3):337-42
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Morava E, Hol FA, Janssen A, Smeitink J. Tall stature and progressive overweight in mitochondrial encephalopathy. J Inherit Metab Dis. 2003; 26 (7):720-2
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Lacassie Y, Morava E, LaMotta I. Provisional new syndrome of MR/MCA with evolving phenotype. Am J Med Genet. 2002 Nov 22; 113 (2):213-7
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Morava E, Lacassie Y, King A, Illes T, Marble M. Scoliosis in velo-cardio-facial syndrome. J Pediatr Orthop. 2002 Nov-Dec; 22 (6):780-3
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Morava E, Karteszi J, Weisenbach J, Caliebe A, Mundlos S, Mehes K. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Eur J Pediatr. 2002 Nov; 161 (11):619-22 Epub 2002 Oct 09
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Morava E, Varga L, Czako M, Decsi T. [Maternal toxoplasma infection and mosaic trisomy 8 syndrome]. Orv Hetil. 2002 Mar 17; 143 (11):563-5
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Czako M, Riegel M, Morava E, Schinzel A, Kosztolanyi G. Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). Am J Med Genet. 2002 Mar 15; 108 (3):226-8
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Morava E, Eduard P, Toth G, Dobos M, Melegh B, Kosztolanyi G. [Mucolipidosis II with unusual biochemical parameters]. Orv Hetil. 2002 Jan 20; 143 (3):135-7
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Shah MK, Morava E, Gill W, Marble MR. Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome. J Perinatol. 2002 Jan; 22 (1):89-90
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Morava E, Czako M, Aszmann M, Illes T, Kosztolanyi GY. Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis. Genet Couns. 2002; 13 (4):455-7
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Halmai V, Szasz K, Morava E, Illes T. [Decreased bone mineral density as a risk factor in the development of spinal deformities in neurofibromatosis]. Orv Hetil. 2001 Dec 30; 142 (52):2893-7
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Karteszi J, Morava E, Czako M, Gati I, Czopf J, Kosztolanyi G, Melegh B. [Kennedy disease in a patient with progressive speech disorder]. Orv Hetil. 2001 Sep 2; 142 (35):1915-7
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Riegel M, Morava E, Czako M, Kosztolanyi G, Schinzel A. Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies. Am J Med Genet. 2001 Aug 15; 102 (3):227-30
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Horvath A, Morava E, Toth G, Czako M, Melegh B, Kosztolanyi G. [Vascular diseases, spina bifida and schizophrenia in a single family associated with the heterozygote mutation of the heat-sensitive variant of methylenetetrahydrofolate reductase]. Orv Hetil. 2001 Jul 8; 142 (27):1445-8
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Toth G, Morava E, Bene J, Selhorst JJ, Overmars H, Vreken P, Molnar J, Farkas V, Melegh B. Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome. J Inherit Metab Dis. 2001 Jun; 24 (3):421-2
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Morava E, Smith C, Pierce M, Andersson HC. Management dilemmas in patients with hereditary renal adysplasia. J La State Med Soc. 2001 Jan; 153 (1):27-30
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Morava E, Czako M, Melegh B, Kosztolanyi G. Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children. Clin Genet. 2000 Nov; 58 (5):403-5
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Morava E, Masszi G, Czako M, Toth G, Melegh B, Kosztolanyi G. [22q11.2 chromosome deletion and velo-cardio-facial syndrome in a patient with tetralogy of Fallot]. Orv Hetil. 2000 Aug 20; 141 (34):1873-5
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Harangi F, Morava E, Adonyi M. [Occurrence of X-linked ichthyosis along with atopy]. Orv Hetil. 2000 Jun 4; 141 (23):1301-3
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Morava E, Vegh E, Bona I, Kiss I, Oroszi B, Jozan P. Health risk factors and mortality in Pecs City, Hungary in the 1990s. Cent Eur J Public Health. 2000 May; 8 (2):109-13
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Morava E, Hermann R, Czako M, Soltesz G, Kosztolanyi G. Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. Am J Med Genet. 2000 Mar 13; 91 (2):99-101
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Herczegfalvi A, Toth G, Gyurus P, Morava E, Endreffy E, Fodor F, Mechler F, Laszlo A, Rasko I, Melegh B. Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies. Neuromuscul Disord. 1999 Dec; 9 (8):552-4
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Gyurus P, Molnar J, Melegh B, Toth G, Morava E, Kosztolanyi G, Mehes K. Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population. Am J Med Genet. 1999 Nov 26; 87 (3):245-50
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Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem Biophys Res Commun. 1999 Nov 19; 265 (2):339-44
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Kovacs E, Morava E, Nadasi E, Czako M, Melegh B, Kosztolanyi G. [Molecular biologic screening test (PCR) for fragile X syndrome]. Orv Hetil. 1998 Dec 27; 139 (52):3121-3
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Marble M, Morava E, Lopez R, Pierce M, Pierce R. Report of a new patient with transposition of the great arteries with deletion of 22q11.2. Am J Med Genet. 1998 Jul 24; 78 (4):317-8
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Morava E, Gill W, Pierce M. [Extracorporeal membrane oxygenation in neonatology: review of the use of the method]. Orv Hetil. 1998 Feb 22; 139 (8):403-6
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Morava E, Kosztolanyi G. [Alpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex]. Orv Hetil. 1996 Dec 15; 137 (50):2799-801
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Morava E, Storcz J, Kosztolanyi G. X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. Am J Med Genet. 1996 Jul 12; 64 (1):59-62
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Morava E, Adamovich K, Czeizel AE. Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome. Clin Genet. 1996 Apr; 49 (4):211-5
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Melegh B, Pap M, Morava E, Molnar D, Dani M, Kurucz J. Carnitine-dependent changes of metabolic fuel consumption during long-term treatment with valproic acid. J Pediatr. 1994 Aug; 125 (2):317-21
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