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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002.
Am J Hum Genet. 2020.
PMID: 33157009
Free PMC article.
Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures.
Bartnik M, Chun-Hui Tsai A, Xia Z, Cheung SW, Stankiewicz P.
Bartnik M, et al. Among authors: chun hui tsai a.
Clin Genet. 2011 Aug;80(2):191-5. doi: 10.1111/j.1399-0004.2010.01526.x. Epub 2010 Aug 2.
Clin Genet. 2011.
PMID: 20807223
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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: chun hui tsai a.
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.
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