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332 results

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Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: rehm hl. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
A call to action to scale up research and clinical genomic data sharing.
Stark Z, Glazer D, Hofmann O, Rendon A, Marshall CR, Ginsburg GS, Lunt C, Allen N, Effingham M, Hastings Ward J, Hill SL, Ali R, Goodhand P, Page A, Rehm HL, North KN, Scott RH. Stark Z, et al. Among authors: rehm hl. Nat Rev Genet. 2024 Oct 7. doi: 10.1038/s41576-024-00776-0. Online ahead of print. Nat Rev Genet. 2024. PMID: 39375561 Review.
Implementation of a dyadic nomenclature for monogenic diseases.
Thaxton C, Biesecker LG, DiStefano M, Haendel M, Hamosh A, Owens E, Plon SE, Rehm HL, Berg JS. Thaxton C, et al. Among authors: rehm hl. Am J Hum Genet. 2024 Sep 5;111(9):1810-1818. doi: 10.1016/j.ajhg.2024.07.019. Am J Hum Genet. 2024. PMID: 39241757 Review.
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh VS, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: rehm hl. Ann Clin Transl Neurol. 2024 Sep;11(9):2392-2405. doi: 10.1002/acn3.52154. Epub 2024 Aug 2. Ann Clin Transl Neurol. 2024. PMID: 39095936 Free PMC article.
332 results