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Germline Chd8 haploinsufficiency alters brain development in mouse.
Gompers AL, Su-Feher L, Ellegood J, Copping NA, Riyadh MA, Stradleigh TW, Pride MC, Schaffler MD, Wade AA, Catta-Preta R, Zdilar I, Louis S, Kaushik G, Mannion BJ, Plajzer-Frick I, Afzal V, Visel A, Pennacchio LA, Dickel DE, Lerch JP, Crawley JN, Zarbalis KS, Silverman JL, Nord AS. Gompers AL, et al. Among authors: wade aa. Nat Neurosci. 2017 Aug;20(8):1062-1073. doi: 10.1038/nn.4592. Epub 2017 Jun 26. Nat Neurosci. 2017. PMID: 28671691 Free PMC article.
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.
Haigh JL, Adhikari A, Copping NA, Stradleigh T, Wade AA, Catta-Preta R, Su-Feher L, Zdilar I, Morse S, Fenton TA, Nguyen A, Quintero D, Agezew S, Sramek M, Kreun EJ, Carter J, Gompers A, Lambert JT, Canales CP, Pennacchio LA, Visel A, Dickel DE, Silverman JL, Nord AS. Haigh JL, et al. Among authors: wade aa. Genome Med. 2021 Apr 26;13(1):69. doi: 10.1186/s13073-021-00884-0. Genome Med. 2021. PMID: 33910599 Free PMC article.
44 results