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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM; CAUSES Study; Phillips RS, Chapman G, Dunwoodie SL. Szot JO, et al. Among authors: devine wp. Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33942433 Free PMC article.
Requirement for chitin biosynthesis in epithelial tube morphogenesis.
Devine WP, Lubarsky B, Shaw K, Luschnig S, Messina L, Krasnow MA. Devine WP, et al. Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17014-9. doi: 10.1073/pnas.0506676102. Epub 2005 Nov 15. Proc Natl Acad Sci U S A. 2005. PMID: 16287975 Free PMC article.
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N. Mavura Y, et al. Among authors: devine wp. NPJ Genom Med. 2024 Jan 3;9(1):1. doi: 10.1038/s41525-023-00385-6. NPJ Genom Med. 2024. PMID: 38172272 Free PMC article.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. Penon-Portmann M, et al. Among authors: devine wp. Am J Med Genet A. 2022 Aug;188(8):2360-2366. doi: 10.1002/ajmg.a.62872. Epub 2022 Jun 25. Am J Med Genet A. 2022. PMID: 35751429 Free PMC article.
Next-Generation Sequencing of Retinoblastoma Identifies Pathogenic Alterations beyond RB1 Inactivation That Correlate with Aggressive Histopathologic Features.
Afshar AR, Pekmezci M, Bloomer MM, Cadenas NJ, Stevers M, Banerjee A, Roy R, Olshen AB, Van Ziffle J, Onodera C, Devine WP, Grenert JP, Bastian BC, Solomon DA, Damato BE. Afshar AR, et al. Among authors: devine wp. Ophthalmology. 2020 Jun;127(6):804-813. doi: 10.1016/j.ophtha.2019.12.005. Epub 2019 Dec 12. Ophthalmology. 2020. PMID: 32139107 Free PMC article.
35 results