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Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N. Al-Sayed MD, et al. Among authors: ghaziuddin m. Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075186 Free PMC article.
Autism spectrum disorder in a child with propionic acidemia.
Al-Owain M, Kaya N, Al-Shamrani H, Al-Bakheet A, Qari A, Al-Muaigl S, Ghaziuddin M. Al-Owain M, et al. Among authors: ghaziuddin m. JIMD Rep. 2013;7:63-6. doi: 10.1007/8904_2012_143. Epub 2012 Mar 31. JIMD Rep. 2013. PMID: 23430497 Free PMC article.
Patients with Autism Spectrum or Intellectual Disability in the Psychiatric Emergency Department: Findings from a 10-year Retrospective Review.
Hong V, Miller F, Kentopp S, Reynard H, Biermann B, Beser C, Shamshair S, Fay B, Shobassy A, Stanley M, Weston C, Ghaziuddin M, Ghaziuddin N. Hong V, et al. Among authors: ghaziuddin m. J Autism Dev Disord. 2024 Dec 11. doi: 10.1007/s10803-024-06658-y. Online ahead of print. J Autism Dev Disord. 2024. PMID: 39661252
Return of genetic research results in 21,532 individuals with autism.
Wright JR, Astrovskaya I, Barns SD, Goler A, Zhou X, Shu C, Snyder LG, Han B; SPARK Consortium; Shen Y, Volfovsky N, Hall JB, Feliciano P, Chung WK. Wright JR, et al. Genet Med. 2024 Oct;26(10):101202. doi: 10.1016/j.gim.2024.101202. Epub 2024 Jun 29. Genet Med. 2024. PMID: 38958063 Free article.
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Prevalence of Autism Spectrum Disorders in Adult Outpatient Psychiatry.
Nyrenius J, Eberhard J, Ghaziuddin M, Gillberg C, Billstedt E. Nyrenius J, et al. Among authors: ghaziuddin m. J Autism Dev Disord. 2022 Sep;52(9):3769-3779. doi: 10.1007/s10803-021-05411-z. Epub 2022 Jan 6. J Autism Dev Disord. 2022. PMID: 34993724
105 results