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Page 1
Impact of integrated translational research on clinical exome sequencing.
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. Klee EW, et al. Among authors: pinto e vairo f. Genet Med. 2023 Feb;25(2):100359. doi: 10.1016/j.gim.2022.12.006. Genet Med. 2023. PMID: 36745126 Free article. No abstract available.
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
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. Schultz-Rogers L, et al. Among authors: pinto e vairo f. Mol Genet Genomic Med. 2020 Nov;8(11):e1477. doi: 10.1002/mgg3.1477. Epub 2020 Sep 12. Mol Genet Genomic Med. 2020. PMID: 32918542 Free PMC article.
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
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. Smith RS, et al. Among authors: pinto e vairo f. Proc Natl Acad Sci U S A. 2021 Jun 22;118(25):e2023333118. doi: 10.1073/pnas.2023333118. Proc Natl Acad Sci U S A. 2021. PMID: 34161264 Free PMC article.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Blackburn PR, et al. Among authors: pinto e vairo f. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487885 Free PMC article.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. Radenkovic S, et al. Among authors: pinto e vairo f. Genet Med. 2022 Apr;24(4):894-904. doi: 10.1016/j.gim.2021.12.012. Epub 2022 Jan 15. Genet Med. 2022. PMID: 35042660 Free article.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
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, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Among authors: pinto e vairo f. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection.
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. Miao J, et al. Among authors: pinto e vairo f. Mayo Clin Proc. 2021 Sep;96(9):2342-2353. doi: 10.1016/j.mayocp.2021.01.037. Epub 2021 Jun 11. Mayo Clin Proc. 2021. PMID: 34120753 Free article.
49 results