Publications

1. 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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2. 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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3. 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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4. Xie Z, Lasho T, Khurana A, Ferrer A, Finke C, Mangaonkar AA, Ansell S, Fernandez J, Shah MV, Al-Kali A, Gangat N, Abeykoon J, Witzig TE, Patnaik MM. Prognostic relevance of clonal hematopoiesis in myeloid neoplastic transformation in patients with follicular lymphoma treated with radioimmunotherapy. Haematologica. 2024 Feb 1; 109 (2):509-520 Epub 2024 Feb 01
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5. Ferrer A, Stephens ZD, Kocher JA. Experimental and Computational Approaches to Measure Telomere Length: Recent Advances and Future Directions. Curr Hematol Malig Rep. 2023 Dec; 18 (6):284-291 Epub 2023 Nov 10
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6. Ferrer A, Lasho T, Fernandez JA, Steinauer NP, Simon RA, Finke CM, Carmona EM, Wylam ME, Ongie LJ, Burnap BN, Arana Yi C, Sproat LZ, Foran J, Badar T, Mangaonkar AA, Patnaik MM. Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants. Am J Hematol 2023 Dec; 98 (12):E357-E359 Epub 2023 Sept 04
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7. Badar T, Nanaa A, Foran JM, Viswanatha D, Al-Kali A, Lasho T, Finke C, Alkhateeb HB, He R, Gangat N, Shah M, Tefferi A, Mangaonkar AA, Litzow MR, Ongie LJ, Chlon T, Ferrer A, Patnaik MM. Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms. Haematologica. 2023 Nov 1; 108 (11):3033-3043 Epub 2023 Nov 01
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8. Goswami J, MacArthur TA, Ramachandran D, Mahony CR, Howick AS, Price-Troska T, Thompson RJ, Spears GM, Bailey KR, Patnaik MS, Passos JF, Park MS, Ferrer A. TELOMERE LENGTH OF PERIPHERAL BLOOD MONONUCLEAR CELLS IS ASSOCIATED WITH DISCHARGE DISPOSITION IN OLDER TRAUMA PATIENTS. Shock. 2023 Mar 1; 59 (3):327-333 Epub 2022 Nov 26
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9. Pritzl SL, Gurney M, Badar T, Ferrer A, Lasho T, Finke C, Mangaonkar A, McCullough K, Gangat N, Fernandez J, Al-Kali A, Viswanatha D, He R, Foran J, Patnaik MM. Clinical and molecular spectrum and prognostic outcomes of U2AF1 mutant clonal hematopoiesis- a prospective mayo clinic cohort study. Leuk Res. 2023 Feb; 125:107007 Epub 2022 Dec 28
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10. 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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11. O'Grady L, Schrier Vergano SA, Hoffman TL, Sarco D, Cherny S, Bryant E, Schultz-Rogers L, Chung WK, Sacharow S, Immken LL, Holder S, Blackwell RR, Buchanan C, Yusupov R, Lecoquierre F, Guerrot AM, Rodan L, de Vries BBA, Kamsteeg EJ, Santos Simarro F, Palomares-Bralo M, Brown N, Pais L, Ferrer A, Klee EW, Babovic-Vuksanovic D, Rhodes L, Person R, Begtrup A, Keller-Ramey J, Santiago-Sim T, Schnur RE, Sweetser DA, Gold NB. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 Sep; 188 (9):2750-2759 Epub 2022 May 11
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12. Laffey KG, Stiles RJ, Ludescher MJ, Davis TR, Khwaja SS, Bram RJ, Wettstein PJ, Ramachandran V, Parks CA, Reyes EE, Ferrer A, Canfield JM, Johnson CE, Hammer RD, Gil D, Schrum AG. Early expression of mature alphabeta TCR in CD4(-)CD8(-) T cell progenitors enables MHC to drive development of T-ALL bearing NOTCH mutations. Proc Natl Acad Sci U S A. 2022 Jul 5; 119 (27):e2118529119 Epub 2022 June 29
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13. Ferrer A, Mangaonkar AA, Patnaik MM. Clonal Hematopoiesis and Myeloid Neoplasms in the Context of Telomere Biology Disorders. Curr Hematol Malig Rep. 2022 Jun; 17 (3):61-68 Epub 2022 May 07
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14. Stephens Z, Ferrer A, Boardman L, Iyer RK, Kocher JA. Telogator: a method for reporting chromosome-specific telomere lengths from long reads. Bioinformatics. 2022 Mar 28; 38 (7):1788-1793
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15. Rattan P, Penrice DD, Ahn JC, Ferrer A, Patnaik M, Shah VH, Kamath PS, Mangaonkar AA, Simonetto DA. Inverse Association of Telomere Length With Liver Disease and Mortality in the US Population. Hepatol Commun. 2022 Feb; 6 (2):399-410 Epub 2021 Aug 28
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16. Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM. Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes. Am J Hematol. 2021 Nov 1; 96 (11):1450-1460 Epub 2021 Aug 27
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17. 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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18. Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants. Mol Genet Genomic Med. 2021 Oct; 9 (10):e1799 Epub 2021 Sept 12
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19. St Martin EC, Ferrer A, Wudhikarn K, Mangaonkar A, Hogan W, Tefferi A, Gangat N, Lasho T, Altman JK, Godley LA, Patnaik MM. Clinical features and survival outcomes in patients with chronic myelomonocytic leukemia arising in the context of germline predisposition syndromes. Am J Hematol 2021 Sep 1; 96 (9):E327-E330 Epub 2021 June 04
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20. 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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21. Cecchini MJ, Tarmey T, Ferreira A, Mangaonkar AA, Ferrer A, Patnaik MM, Wylam ME, Jenkins SM, Spears GM, Yi ES, Hartman TE, Scott JP, Roden AC. Pathology, Radiology, and Genetics of Interstitial Lung Disease in Patients With Shortened Telomeres. Am J Surg Pathol. 2021 Jul 1; 45 (7):871-884
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22. Li M, Binder M, Lasho T, Ferrer A, Gangat N, Al-Kali A, Mangaonkar A, Elliott M, Litzow M, Hogan W, Pardanani A, Wolanskyj-Spinner A, Howard M, King RL, Shah M, Alkhateeb H, Begna K, Tefferi A, Finke C, Oliveira J, Ketterling R, Olteanu H, Patnaik MM. Clinical, molecular, and prognostic comparisons between CCUS and lower-risk MDS: a study of 187 molecularly annotated patients. Blood Adv. 2021 Apr 27; 5 (8):2272-2278
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23. Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM. A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype. Haematologica 2021 Apr 1; 106 (4):1188-1192 Epub 2021 Apr 01
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24. 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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25. 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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26. Ferrer A, Mangaonkar AA, Stroik S, Zimmermann MT, Sigafoos AN, Kamath PS, Simonetto DA, Wylam ME, Carmona EM, Lazaridis KN, Peters S, Stewart K, Klee EW, Hendrickson EA, Patnaik MM. Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes. Blood Cancer J 2020 Nov 17; 10 (11):120
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27. Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 Oct; 28(10):1422-1431. Epub 2020 Jun 01.
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28. Saliba AN, Ferrer A, Gangat N, Pruthi RK, Tefferi A, Higgins A, Bezerra ED, Buglioni A, Salama ME, Klee EW, Pinto E Vairo F, Mangaonkar A, Majerus J, Chen D, Patnaik MM. Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients. Br J Haematol 2020 Sep; 190 (5):e316-e320 Epub 2020 June 22
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29. Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA. Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. J Bone Miner Res. 2020 Apr; 35 (4):662-670 Epub 2020 Jan 16
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30. Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Three rare disease diagnoses in one patient through exome sequencing. Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6). Epub 2019 Dec 13.
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31. Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R. Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. Cold Spring Harb Mol Case Stud. 2019 Dec; 5 (6) Epub 2019 Dec 13
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32. Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Gangat N, Hogan WJ, Litzow MR, McAllister TM, Klee EW, Lazaridis KN, Stewart AK, Patnaik MM. Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias. Mayo Clin Proc. 2019 Sep; 94 (9):1753-1768 Epub 2019 June 27
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33. Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M. Variants in DOCK3 cause developmental delay and hypotonia. Eur J Hum Genet. 2019 Aug; 27 (8):1225-1234 Epub 2019 Apr 11
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34. Neier SC, Ferrer A, Wilton KM, Smith SEP, Kelcher AMH, Pavelko KD, Canfield JM, Davis TR, Stiles RJ, Chen Z, McCluskey J, Burrows SR, Rossjohn J, Hebrink DM, Carmona EM, Limper AH, Kappes DJ, Wettstein PJ, Johnson AJ, Pease LR, Daniels MA, Neuhauser C, Gil D, Schrum AG. The early proximal alphabeta TCR signalosome specifies thymic selection outcome through a quantitative protein interaction network. Sci Immunol. 2019 Feb 15; 4 (32)
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35. Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93 (7):834-839
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36. Concepcion AR, Salas JT, Saez E, Sarvide S, Ferrer A, Portu A, Uriarte I, Hervas-Stubbs S, Oude Elferink RP, Prieto J, Medina JF. CD8+ T cells undergo activation and programmed death-1 repression in the liver of aged Ae2a,b-/- mice favoring autoimmune cholangitis. Oncotarget. 2015 Oct 6; 6 (30):28588-606
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37. Concepcion AR, Salas JT, Sarvide S, Saez E, Ferrer A, Lopez M, Portu A, Banales JM, Hervas-Stubbs S, Oude Elferink RPJ, Prieto J, Medina JF. Anion exchanger 2 is critical for CD8+ T cells to maintain pHi homeostasis and modulate immune responses. Eur J Immunol. 2014; 44(5):1341-51.
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38. Gil-Pages M, Stiles RJ, Parks CA, Neier SC, Radulovic M, Oliveros A, Ferrer A, Reed BK, Wilton KM, Schrum AG. Slow angled-descent forepaw grasping (SLAG): an innate behavioral task for identification of individual experimental mice possessing functional vision. Behav Brain Funct. 2013 Aug 23; 9 (1):35
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39. Ferrer A, Schrum AG, Gil D. A PCR-Based Method to Genotype Mice Knocked Out for All Four CD3 Subunits, the Standard Recipient Strain for Retrogenic TCR/CD3 Bone Marrow Reconstitution Technology. Biores Open Access. 2013 Jun; 2 (3):222-6
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40. Salas JT, Banales JM, Sarvide S, Recalde S, Ferrer A, Uriarte I, Oude Elferink RP, Prieto J, Medina JF. Ae2a,b-deficient mice develop antimitochondrial antibodies and other features resembling primary biliary cirrhosis. Gastroenterology. 2008 May; 134 (5):1482-93 Epub 2008 Feb 14
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