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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: marshall cr. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. Among authors: marshall cr. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
Equality of opportunity for timely dementia diagnosis (EQUATED): a qualitative study of how people from minoritised ethnic groups experience the early symptoms of dementia and seek help.
Carter C, Roche M, Whitfield E, Budgett J, Morgan-Trimmer S, Zabihi S, Birks Y, Walter F, Wilberforce M, Jiang J, Ahmed R, Dowridge W, Marshall CR, Cooper C. Carter C, et al. Among authors: marshall cr. Age Ageing. 2024 Nov 1;53(11):afae244. doi: 10.1093/ageing/afae244. Age Ageing. 2024. PMID: 39562343 Free PMC article.
Lung development genes, adult lung function and cognitive traits.
Talaei M, Waters S, Portas L, Jacobs BM, Dodd JW, Marshall CR, Minelli C, Shaheen SO. Talaei M, et al. Among authors: marshall cr. Brain Commun. 2024 Nov 1;6(6):fcae380. doi: 10.1093/braincomms/fcae380. eCollection 2024. Brain Commun. 2024. PMID: 39544701 Free PMC article.
Marital dissolution and cognition: The mediating effect of Aβ neuropathology.
Chandra A, Anjum R, Waters S, Proitsi P, Smith LJ, Marshall CR; Alzheimer's Disease Neuroimaging Initiative. Chandra A, et al. Among authors: marshall cr. Alzheimers Dement (Amst). 2024 Oct 29;16(4):e70032. doi: 10.1002/dad2.70032. eCollection 2024 Oct-Dec. Alzheimers Dement (Amst). 2024. PMID: 39473984 Free PMC article.
403 results