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2016 2
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Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJ. Dutta D, et al. Proc Natl Acad Sci U S A. 2024 Feb 27;121(9):e2322582121. doi: 10.1073/pnas.2322582121. Epub 2024 Feb 21. Proc Natl Acad Sci U S A. 2024. PMID: 38381787
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. Ma M, et al. medRxiv [Preprint]. 2024 Jan 9:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523. medRxiv. 2024. PMID: 38260438 Free PMC article. Preprint.
Simulation of undiagnosed patients with novel genetic conditions.
Alsentzer E, Finlayson SG, Li MM; Undiagnosed Diseases Network; Kobren SN, Kohane IS. Alsentzer E, et al. Nat Commun. 2023 Oct 12;14(1):6403. doi: 10.1038/s41467-023-41980-6. Nat Commun. 2023. PMID: 37828001 Free PMC article.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
75 results