Publications

  1. Padilla H, Pinto E Vairo F, Wirrell EC, Wong-Kisiel LC, Fine AL, Lanpher BC, Smith KM. CHD2-related epilepsy with eyelid myoclonia: Report of three cases. Epileptic Disord. 2024 Nov 6 Epub 2024 Nov 06
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  2. Byeon SK, Kim J, Wegwerth PJ, Zenka R, George JP, Pinto E Vairo F, Oglesbee D, Schultz MJ, Matern D, Pandey A. Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism. Clin Chem. 2024 Nov 4; 70 (11):1366-1374
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  3. Dimartino P, Zadorozhna M, Yumiceba V, Basile A, Cani I, Melo US, Henck J, Breur M, Tonon C, Lodi R, Brusco A, Pippucci T, Koufi FD, Boschetti E, Ramazzotti G, Manzoli L, Ratti S, Pinto E Vairo F, Delatycki MB, Vaula G, Cortelli P, Bugiani M, Spielmann M, Giorgio E. Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy. Ann Neurol. 2024 Nov; 96 (5):855-870 Epub 2024 July 30
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  4. Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, Chen H, Liu H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Pinto E Vairo F, Racacho L, Yuzyuk T, Craigen WJ, Goldstein J. Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework. Mol Genet Metab. 2024 Nov; 143 (3):108593 Epub 2024 Oct 12
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  5. Pinto E Vairo F, Klee E, Lanpher BC, Lanza IR, Liu P, Mao R, Mitchell B, Oglesbee D, Tan Q, Wood H, Zhang Z, Schimmenti L, Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S, Phillips JA 3rd, Stoler J, Taylor H, Zuchner S, Tekin M. Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network. Am J Med Genet A. 2024 Oct 14; e63904 [Epub ahead of print]
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  6. Vernet Machado Bressan Wilke M, Goldstein J, Groopman E, Mohan S, Waddell A, Fernandez R, Chen H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Yuzyuk T, Craigen WJ, Pinto E Vairo F. Developing a scoring system for gene curation prioritization in lysosomal diseases. Mol Genet Metab. 2024 Sep-Oct; 143 (1-2):108572 Epub 2024 Sept 05
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  7. Stellacci E, Carter JN, Pannone L, Stevenson D, Moslehi D, Venanzi S, Bernstein JA, Undiagnosed Diseases Network, Tartaglia M, Martinelli S. Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant. Am J Med Genet A. 2024 Aug; 194 (8):e63627 Epub 2024 Apr 12
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  8. Salama M, Pinto E Vairo F, Hentz R, Al Nofal A, Hassan S, Ibrahim SH, Lteif A, Creo A, Pittock S, Kumar S. Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes. J Endocr Soc. 2024 Jul 26; 8 (9):bvae137 Epub 2024 July 25
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  9. Lu X, Ng K, Pinto E Vairo F, Collins J, Cohn R, Riley K, Agre K, Gavrilova R, Klee EW, Rosenfeld JA, Jiang YH. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. Eur J Hum Genet. 2024 Jul; 32 (7):879-883 Epub 2024 May 03
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  10. McNamee L, Schoch K, Huang A, Lee H, Wang LK, Smith EC, Lark RK, Buckley AF, Jobanputra V, Nelson SF, Shashi V, Undiagnosed Diseases Network. Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy. Am J Med Genet A. 2024 Jun 24; e63798 Epub 2024 June 24
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  11. Liu Q, Zheng Y, Sturmlechner I, Jain A, Own M, Yang Q, Zhang H, Pinto E Vairo F, Cerosaletti K, Buckner JH, Warrington KJ, Koster MJ, Weyand CM, Goronzy JJ. IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease. J Clin Invest. 2024 Jun 13; 134 (16) Epub 2024 June 13
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  12. Garcia Moreno AS, Guicciardi ME, Wixom AQ, Jessen E, Yang J, Ilyas SI, Bianchi JK, Pinto E Vairo F, Lazaridis KN, Gores GJ. IL-17 signaling in primary sclerosing cholangitis patient-derived organoids. Hepatol Commun. 2024 Jun 1; 8 (6) Epub 2024 June 03
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  13. Wilke MVMB, Klee EW, Dhamija R, Fervenza FC, Thomas B, Leung N, Hogan MC, Hager MM, Kolbert KJ, Kemppainen JL, Loftus EC, Leitzen KM, Vitek CR, McAllister T, Lazaridis KN, Pinto E Vairo F. Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet J Rare Dis. 2024 May 24; 19 (1):216
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  14. 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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  15. Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2024 Apr 30; 22 (1):400
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  16. Fadra N, Schultz-Rogers LE, Chanana P, Cousin MA, Macke EL, Ferrer A, Pinto E Vairo F, Olson RJ, Oliver GR, Mulvihill LA, Jenkinson G, Klee EW. Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease. BMC Genomics. 2024 Apr 16; 25 (1):371
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  17. Alrehaili G, Kemppainen J, Kalra S, Pinto E Vairo F, Moua T, Yi ES, Ferrer A, Patnaik MM, Carmona EM. Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis. Lung. 2024 Apr; 202(2):151-156. Epub 2024 Mar 10.
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  18. Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd, Undiagnosed Diseases Network. Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. Am J Med Genet A. 2024 Mar 21; e63597 [Epub ahead of print]
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  19. Szakszon K, Lourenco CM, Callewaert BL, Genevieve D, Rouxel F, Morin D, Denomme-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadije J, Giltay J, van Gassen K, Mero G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-Gonzalez AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. J Med Genet. 2024 Jan 19; 61 (2):132-141
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  20. Montenegro YHA, Kubaski F, Trapp FB, Riegel-Giugliani M, Souza CFM, Ribeiro EM, Lourenco CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embirucu EK, Steiner CE, Vairo FPE, Baldo G, Giugliani R, Poswar FO. Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genet Mol Biol. 2024; 47 (1):e20230285 Epub 2024 Mar 08
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  21. Donis KC, Kalil MAB, Poswar F, Kok F, Kohem CL, Poloni S, Borsatto T, Pinto e Vairo F, Pinheiro FC, Schwartz IVD. An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: a case report. Genetics and Molecular Biology. 2024; 47 (1):e20220335
  22. Basgalupp SP, Altmann V, Pinto e Vairo F, Deoderlein Schwartz IV, Siebert M. gba1 variants in Brazilian Gaucher disease patients. Molecular Genetics and Metabolism Reports. 2023 Dec; 37:101006
  23. Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel. Mol Genet Metab. 2023 Sep-Oct; 140 (1-2):107715 Epub 2023 Oct 26
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  24. Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2023 Jun 23; 21(1):410.
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  25. Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, Bonnemann CG, Klee EW. Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. Am J Hum Genet. 2023 Jun 1; 110 (6):989-997 Epub 2023 May 10
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  26. El Ters M, Pinto E Vairo F, Prochnow C, Schinstock C, Dean P, Kemppainen J, Lazaridis K, Cosio F, Fervenza FC, Cornell L, Amer H, Hogan MC. Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach. Transplantation. 2023 Apr 1; 107 (4):952-960 Epub 2023 Mar 31
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  27. Colonetti K, Pinto E Vairo F, Siebert M, Nalin T, Poloni S, Fernando Wurdig Roesch L, Fischinger Moura de Souza C, Cabral Pinheiro F, Vanessa Doederlein Schwartz I. Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects? Cytokine. 2023 Feb; 162:156088 Epub 2022 Nov 30
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  28. 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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  29. Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 Sep 1; 109 (9):1713-1723 Epub 2022 Aug 09
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  30. 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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  31. Winckler PB, Chwal BC, Dos Santos MAR, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FPE, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurol Sci. 2022 Jul; 43 (7):4473-4481 Epub 2022 Feb 17
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  32. Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 Jun 13; 14(1):62.
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  33. 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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  34. Safgren SL, Olson RJ, Pinto E Vairo F, Bothun ED, Hanna C, Klee EW, Schimmenti LA. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. Am J Med Genet A. 2022 Mar; 188 (3):919-925 Epub 2021 Nov 19
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  35. Paskulin LD, Starosta RT, Pinto e Vairo F, Krug BC, Picon P, Schwartz IVD. Efficacy and safety of taliglucerase alfa for the treatment of Gaucher disease: a 9-year experience. Journal of Inborn Errors of Metabolism and Screening. 2022; 10:e20210031
  36. 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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  37. Mangaonkar AA, Ferrer A, Vairo FPE, Hammel CW, Prochnow C, Gangat N, Hogan WJ, Litzow MR, Peters SG, Scott JP, Utz JP, Baqir M, Carmona-Porquera EM, Kalra S, Sekiguchi H, Khan SP, Simonetto DA, Klee EW, Kamath PS, Roden AC, Joshi AY, Kennedy CC, Wylam ME, Patnaik MM. Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths. Blood Cancer J 2021 Oct 22; 11 (10):170
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  38. Paskulin LD, Starosta RT, Bertholdo D, Vairo FP, Vedolin L, Schwartz IVD. Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment. Blood Cells Mol Dis. 2021 Sep; 90:102591 Epub 2021 July 01
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  39. Miao J, Pinto E Vairo F, Hogan MC, Erickson SB, El Ters M, Bentall AJ, Kukla A, Greene EL, Hernandez LH, Sethi S, Lazaridis KN, Pichurin PN, Lisi E, Prochnow CA, Zand L, Fervenza FC. Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection. Mayo Clin Proc. 2021 Sep; 96(9):2342-2353. Epub 2021 Jun 11.
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  40. Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Pinto e Vairo F, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Elevated holo-transcobalamin in Gaucher disease type II: A case report. Am J Med Genet A. 2021 Aug; 185 (8):2471-2476 Epub 2021 May 24
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  41. Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gerard B, Bloch-Zupan A, Smith RJ, Klee EW, Undiagnosed Diseases Network. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Am J Med Genet A. 2021 Aug; 185 (8):2417-2433 Epub 2021 May 27
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  42. Reichert R, Perez JA, Dalla-Corte A, Pinto E Vairo F, de Souza CFM, Giugliani R, Isolan GR, Stefani MA. Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysis. JIMD Rep. 2021 Jul; 60 (1):32-41 Epub 2021 Mar 21
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  43. 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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  44. Pinto E Vairo F, Koster MJ, Kemppainen JL, Thomas BC, Warrington KJ. Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2). Rheumatology (Oxford) 2021 Jun 18; 60 (6):e218-e219
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  45. Bryant CJ, Lorea CF, de Almeida HL Jr, Weinert L, Vedolin L, Pinto E Vairo F, Baserga SJ. Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome. Proc Natl Acad Sci U S A. 2021 May 11; 118 (19)
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  46. 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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  47. van Geest FS, Meima ME, Stuurman KE, Wolf NI, van der Knaap MS, Lorea CF, Poswar FO, Vairo F, Brunetti-Pierri N, Cappuccio G, Bakhtiani P, de Munnik SA, Peeters RP, Visser WE, Groeneweg S. Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series. J Clin Endocrinol Metab. 2021 Jan 23; 106 (2):539-553
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  48. Pinto E Vairo F, Prochnow C, Kemppainen JL, Lisi EC, Steyermark JM, Kruisselbrink TM, Pichurin PN, Dhamija R, Hager MM, Albadri S, Cornell LD, Lazaridis KN, Klee EW, Senum SR, El Ters M, Amer H, Baudhuin LM, Moyer AM, Keddis MT, Zand L, Sas DJ, Erickson SB, Fervenza FC, Lieske JC, Harris PC, Hogan MC. Genomics Integration Into Nephrology Practice. Kidney Med. 2021 Sep-Oct; 3(5):785-798. Epub 2021 Jun 29.
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  49. Starosta RT, Siebert M, Vairo FPE, Costa BLL, Ponzoni CT, Schwartz IVD, Cerski CTS. Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1. Autops Case Rep. 2021; 11:e2021306 Epub 2021 Aug 20
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  50. Borges P, Pasqualim G, Giugliani R, Vairo F, Matte U. Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. Orphanet J Rare Dis. 2020 Nov 18; 15 (1):324
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  51. Schultz-Rogers L, Muthusamy K, Pinto E Vairo F, Klee EW, Lanpher B. Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report. BMC Med Genet. 2020 Nov 10; 21 (1):219
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  52. Magalhaes APPS, Burin MG, Souza CFM, de Bitencourt FH, Sebastiao FM, Silva TO, Vairo FPE, Schwartz IVD. Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center. J Pediatr (Rio J). 2020 Nov - Dec; 96 (6):710-716 Epub 2019 Oct 31
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  53. Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. Mol Genet Genomic Med. 2020 Nov; 8 (11):e1477 Epub 2020 Sept 12
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  54. Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW. Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa. Thromb Res 2020 Nov; 195:187-189 Epub 2020 July 09
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  55. Santiago KM, Castro LP, Neto JPD, de Nobrega AF, Pinto CAL, Ashton-Prolla P, Pinto E Vairo F, de Medeiros PFV, Ribeiro EM, Ribeiro BFR, do Valle FF, Doriqui MJR, Leite CHB, Rocha RM, Moura LMS, Munford V, Galante PAF, Menck CFM, Rogatto SR, Achatz MI. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients. J Eur Acad Dermatol Venereol. 2020 Oct; 34 (10):2392-2401 Epub 2020 May 21
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  56. Macke EL, Pinto E Vairo F, Manian DV, Smith AR, Kemppainen JL, Klee EW, Stephens MC, Joshi AY. Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease. J Clin Immunol 2020 Oct; 40 (7):1056-1061 Epub 2020 July 27
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  129. Siebert M, Donis KC, Socal M, Rieder CR, Emmel VE, Vairo F, Michelin-Tirelli K, Franca M Jr, D'Abreu AC, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira ML, Jardim LB. Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3. Parkinsonism Relat Disord. 2012 Feb; 18: (2)185-90.
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