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Defining and pursuing diversity in human genetic studies.
Raven-Adams MC, Hernandez-Boussard T, Joly Y, Knoppers BM, Chandrasekharan S, Thorogood A, Kumuthini J, Ho CWL, Gonzlez A, Nelson SC, Bombard Y, Thaldar D, Liu H, Costa A, Muralidharan V, Henriques S, Nasir J, Lumaka A, Kaiser B, Jamuar SS, Lewis ACF. Raven-Adams MC, et al. Among authors: bombard y. Nat Genet. 2024 Oct;56(10):1985-1988. doi: 10.1038/s41588-024-01903-7. Nat Genet. 2024. PMID: 39251787 No abstract available.
Genome screening, reporting, and genetic counseling for healthy populations.
Casalino S, Frangione E, Chung M, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh TJ, Simpson J, Arnoldo S, Aujla N, Bearss E, Binnie A, Borgundvaag B, Chertkow H, Clausen M, Dagher M, Devine L, Di Iorio D, Friedman SM, Fung CYJ, Gingras AC, Goneau LW, Kaushik D, Khan Z, Lapadula E, Lu T, Mazzulli T, McGeer A, McLeod SL, Morgan G, Richardson D, Singh H, Stern S, Taher A, Wong I, Zarei N, Greenfeld E, Hao L, Lebo M, Lane W, Noor A, Taher J, Lerner-Ellis J. Casalino S, et al. Among authors: bombard y. Hum Genet. 2023 Feb;142(2):181-192. doi: 10.1007/s00439-022-02480-7. Epub 2022 Nov 4. Hum Genet. 2023. PMID: 36331656 Free PMC article.
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Friedman JM, Bombard Y, Carleton B, Issa AM, Knoppers B, Plon SE, Rahimzadeh V, Relling MV, Williams MS, van Karnebeek C, Vears D, Cornel MC; Global Alliance for Genomics and Health Regulatory and Ethics Workstream. Friedman JM, et al. Among authors: bombard y. Genet Med. 2024 Feb;26(2):101033. doi: 10.1016/j.gim.2023.101033. Epub 2023 Nov 23. Genet Med. 2024. PMID: 38007624 Free article.
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ, Archibald A, Bombard Y, Christodoulou J, Clausen M, De Fazio P, Greaves RF, Hollizeck S, Kanga-Parabia A, Lang N, Lynch F, Peters R, Sadedin S, Tutty E, Eggers S, Lee C, Wall M, Yeung A, Gaff C, Gyngell C, Vears DF, Best S, Goranitis I, Stark Z. Lunke S, et al. Among authors: bombard y. BMJ Open. 2024 Apr 3;14(4):e081426. doi: 10.1136/bmjopen-2023-081426. BMJ Open. 2024. PMID: 38569677 Free PMC article.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Bouffler SE, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Marum JE, Delatycki M, Downie L, Goranitis I, Vears DF, Best S, Clausen M, Bombard Y, Stark Z, Gaff CL. Bouffler SE, et al. Among authors: bombard y. BMJ Open. 2023 Jun 2;13(6):e072999. doi: 10.1136/bmjopen-2023-072999. BMJ Open. 2023. PMID: 37270192 Free PMC article.
A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate.
Kaiser B, Uberoi D, Raven-Adams MC, Cheung K, Bruns A, Chandrasekharan S, Otlowski M, Prince AER, Tiller J, Ahmed A, Bombard Y, Dupras C, Moreno PG, Ryan R, Valderrama-Aguirre A, Joly Y. Kaiser B, et al. Among authors: bombard y. Nat Genet. 2024 Jul;56(7):1339-1345. doi: 10.1038/s41588-024-01786-8. Epub 2024 Jun 24. Nat Genet. 2024. PMID: 38914718 Review.
135 results