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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: liebelt je. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Among authors: liebelt je. Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. Nat Med. 2024. PMID: 37429925 No abstract available.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Among authors: liebelt je. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS. Byrne AB, et al. Among authors: liebelt je. J Med Genet. 2020 Jul;57(7):454-460. doi: 10.1136/jmedgenet-2019-106700. Epub 2020 Jan 27. J Med Genet. 2020. PMID: 31988067 Free PMC article.