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Mitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus.
Gokhale A, Lee CE, Zlatic SA, Freeman AAH, Shearing N, Hartwig C, Ogunbona O, Bassell JL, Wynne ME, Werner E, Xu C, Wen Z, Duong D, Seyfried NT, Bearden CE, Oláh VJ, Rowan MJM, Glausier JR, Lewis DA, Faundez V. Gokhale A, et al. J Neurosci. 2021 Aug 4;41(31):6596-6616. doi: 10.1523/JNEUROSCI.2197-20.2021. Epub 2021 Jul 14. J Neurosci. 2021. PMID: 34261699 Free PMC article.
A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Collins RL, et al. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1. Cell. 2022. PMID: 35917817
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