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Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D; University of Washington Center for Mendelian Genomics; Chun-Hui Tsai A, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ. Sobering AK, et al. Among authors: nelson b. HGG Adv. 2022 Dec 20;4(1):100168. doi: 10.1016/j.xhgg.2022.100168. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36583168 Free PMC article.
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D; University of Washington Center for Mendelian Genomics; Tsai AC, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ. Sobering AK, et al. Among authors: nelson b. HGG Adv. 2022 Mar 26;3(3):100102. doi: 10.1016/j.xhgg.2022.100102. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35469323 Free PMC article.
Genetic diagnosis of Down syndrome in an underserved community.
Sobering AK, Stevens JB, Smith JL, Nelson B, Donald T, Elsea SH. Sobering AK, et al. Among authors: nelson b. Am J Med Genet A. 2018 Feb;176(2):483-486. doi: 10.1002/ajmg.a.38573. Epub 2017 Dec 26. Am J Med Genet A. 2018. PMID: 29278455
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ. Sobering AK, et al. Among authors: nelson b. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1030-1041. doi: 10.1002/ajmg.c.31871. Epub 2020 Dec 4. Am J Med Genet C Semin Med Genet. 2020. PMID: 33274544 Free PMC article.
2,942 results