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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: clair l. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. Update in: Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. PMID: 38645094 Free PMC article. Updated. Preprint.
Demographic and Clinical Presentations of Youth using Enhanced Mental Health Services in Six Indigenous Communities from the ACCESS Open Minds Network.
Boksa P, Hutt-MacLeod D, Clair L, Brass G, Bighead S, MacKinnon A, Etter M, Gould H, Sock E, Matoush J, Rabbitskin N, Ballantyne C, Goose A, Rudderham H, Plourde V, Gordon M, Gilbert L, Ramsden VR, Noel V, Malla A, Iyer SN. Boksa P, et al. Among authors: clair l. Can J Psychiatry. 2022 Mar;67(3):179-191. doi: 10.1177/07067437211055416. Epub 2021 Nov 19. Can J Psychiatry. 2022. PMID: 34796730 Free PMC article.
The financial impact of cancer on Canadian young adults.
Mahon KN, Garland SN, Eaton G, Chalifour K, Lane BE, Fowler K, Gambin L, Clair L. Mahon KN, et al. Among authors: clair l. J Cancer Surviv. 2023 Feb;17(1):174-186. doi: 10.1007/s11764-021-00998-9. Epub 2021 Feb 14. J Cancer Surviv. 2023. PMID: 33586129
27 results