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Page 1
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J. Shickh S, et al. Among authors: nevay dl. J Med Genet. 2021 Apr;58(4):275-283. doi: 10.1136/jmedgenet-2020-106936. Epub 2020 Jun 24. J Med Genet. 2021. PMID: 32581083 Free PMC article.
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.
Oliveira LM, Rastin T, Nimmo GAM, Ross JP, Dion PA, Zhang M, Nevay DL, Arkadir D, Gotkine M, Barnett C, Shoesmith CL, Zimran A, Rogaeva EA, Zinman L, Rouleau GA, Gan-Or Z, Amato D, Kalia LV. Oliveira LM, et al. Among authors: nevay dl. Neurol Genet. 2021 May 18;7(4):e600. doi: 10.1212/NXG.0000000000000600. eCollection 2021 Aug. Neurol Genet. 2021. PMID: 34017912 Free PMC article.
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review.
McGillis L, Mittal N, Santa Mina D, So J, Soowamber M, Weinrib A, Soever L, Rozenberg D, Liu L, Tse Y, Katz J, Charames GS, Murphy K, Vadas P, Slepian MP, Walsh S, Wilson L, Adler A, Franzese A, Hussey L, Nevay DL, Guzman J, Clarke H. McGillis L, et al. Among authors: nevay dl. Am J Med Genet A. 2020 Mar;182(3):484-492. doi: 10.1002/ajmg.a.61459. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840928
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. Lessel I, et al. Among authors: nevay dl. Am J Hum Genet. 2025 Jan 3:S0002-9297(24)00454-3. doi: 10.1016/j.ajhg.2024.12.012. Online ahead of print. Am J Hum Genet. 2025. PMID: 39798569 Free article.