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"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.
Stafford-Smith B, Gurasashvili J, Peter M, Daniel M, Balasubramanian M, Bownass L, Brennan P, Cleaver R, Clowes V, Costello P, DeSouza B, Dubois L, Harrison R, Hawkes L, Jones EA, Kraus A, McEntagart M, Somarathi S, Taylor A, Tripathi V, Chitty LS, Hill M. Stafford-Smith B, et al. Among authors: harrison r. Eur J Hum Genet. 2024 Nov 5. doi: 10.1038/s41431-024-01716-6. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39496896 Free article.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees; Lalloo F. Hanson H, et al. J Med Genet. 2023 May;60(5):417-429. doi: 10.1136/jmg-2022-108898. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411032 Free PMC article.
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.
Roshandel D, Sanders EJ, Shakeshaft A, Panjwani N, Lin F, Collingwood A, Hall A, Keenan K, Deneubourg C, Mirabella F, Topp S, Zarubova J, Thomas RH, Talvik I, Syvertsen M, Striano P, Smith AB, Selmer KK, Rubboli G, Orsini A, Ng CC, Møller RS, Lim KS, Hamandi K, Greenberg DA, Gesche J, Gardella E, Fong CY, Beier CP, Andrade DM, Jungbluth H, Richardson MP, Pastore A, Fanto M, Pal DK, Strug LJ; BIOJUME Consortium. Roshandel D, et al. NPJ Genom Med. 2023 Sep 28;8(1):28. doi: 10.1038/s41525-023-00370-z. NPJ Genom Med. 2023. PMID: 37770509 Free PMC article.
Atmospheric new particle formation identifier using longitudinal global particle number size distribution data.
Kecorius S, Madueño L, Lovric M, Racic N, Schwarz M, Cyrys J, Casquero-Vera JA, Alados-Arboledas L, Conil S, Sciare J, Ondracek J, Hallar AG, Gómez-Moreno FJ, Ellul R, Kristensson A, Sorribas M, Kalivitis N, Mihalopoulos N, Peters A, Gini M, Eleftheriadis K, Vratolis S, Jeongeun K, Birmili W, Bergmans B, Nikolova N, Dinoi A, Contini D, Marinoni A, Alastuey A, Petäjä T, Rodriguez S, Picard D, Brem B, Priestman M, Green DC, Beddows DCS, Harrison RM, O'Dowd C, Ceburnis D, Hyvärinen A, Henzing B, Crumeyrolle S, Putaud JP, Laj P, Weinhold K, Plauškaitė K, Byčenkienė S. Kecorius S, et al. Among authors: harrison rm. Sci Data. 2024 Nov 16;11(1):1239. doi: 10.1038/s41597-024-04079-1. Sci Data. 2024. PMID: 39550387 Free PMC article.
4,127 results