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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J. Shickh S, et al. Among authors: bombard y. J Med Genet. 2021 Apr;58(4):275-283. doi: 10.1136/jmedgenet-2020-106936. Epub 2020 Jun 24. J Med Genet. 2021. PMID: 32581083 Free PMC article.
Public views on participating in newborn screening using genome sequencing.
Bombard Y, Miller FA, Hayeems RZ, Barg C, Cressman C, Carroll JC, Wilson BJ, Little J, Avard D, Painter-Main M, Allanson J, Giguere Y, Chakraborty P. Bombard Y, et al. Eur J Hum Genet. 2014 Nov;22(11):1248-54. doi: 10.1038/ejhg.2014.22. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549052 Free PMC article.
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. Reuter MS, et al. Among authors: bombard y. CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151. CMAJ. 2018. PMID: 29431110 Free PMC article.
Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.
Shickh S, Clausen M, Mighton C, Casalino S, Joshi E, Glogowski E, Schrader KA, Scheer A, Elser C, Panchal S, Eisen A, Graham T, Aronson M, Semotiuk KM, Winter-Paquette L, Evans M, Lerner-Ellis J, Carroll JC, Hamilton JG, Offit K, Robson M, Thorpe KE, Laupacis A, Bombard Y. Shickh S, et al. Among authors: bombard y. BMJ Open. 2018 Apr 26;8(4):e021876. doi: 10.1136/bmjopen-2018-021876. BMJ Open. 2018. PMID: 29700101 Free PMC article.
123 results