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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.
16p11.2 Recurrent Deletion.
Taylor CM, Smith R, Lehman C, Mitchel MW, Singer K, Weaver WC, Chung W. Taylor CM, et al. Among authors: weaver wc. 2009 Sep 22 [updated 2021 Oct 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Sep 22 [updated 2021 Oct 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301775 Free Books & Documents. Review.
Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic.
Kowanda M, Cartner L, Kentros C, Geltzeiler AR, Singer KE, Weaver WC, Lehman CD, Smith S, Smith RS, Walsh LK, Diehl K, Nagpal N, Brooks E, Mebane CM, Wilson AL, Marvin AR, White LC, Law JK, Jensen W, Daniels AM, Tjernagel J, Snyder LG, Taylor CM, Chung WK. Kowanda M, et al. Among authors: weaver wc. J Child Neurol. 2021 Aug;36(9):760-767. doi: 10.1177/08830738211001209. Epub 2021 Apr 8. J Child Neurol. 2021. PMID: 33829918 Free PMC article.