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Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models.
Jay KL, Gogate N, Ezell K, Andrews JC, Jangam SV, Hall PI, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch E; Brain Gene Registry Consortium, Undiagnosed Diseases Network; Yamamoto S, Kanca O, Bellen HJ, Dierick H, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Posey JE, Wangler MF. Jay KL, et al. Among authors: hall pi. medRxiv [Preprint]. 2024 Sep 28:2024.09.27.24314092. doi: 10.1101/2024.09.27.24314092. medRxiv. 2024. PMID: 39399018 Free PMC article. Preprint.
Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements.
Rogers BB, Anderson AG, Lauzon SN, Davis MN, Hauser RM, Roberts SC, Rodriguez-Nunez I, Trausch-Lowther K, Barinaga EA, Hall PI, Knuesel MT, Taylor JW, Mackiewicz M, Roberts BS, Cooper SJ, Rizzardi LF, Myers RM, Cochran JN. Rogers BB, et al. Among authors: hall pi. Am J Hum Genet. 2024 Feb 1;111(2):259-279. doi: 10.1016/j.ajhg.2023.12.015. Epub 2024 Jan 16. Am J Hum Genet. 2024. PMID: 38232730 Free PMC article.