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Page 1
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: reble e. 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.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Riggs ER, et al. Among authors: reble e. Genet Med. 2022 Sep;24(9):1899-1908. doi: 10.1016/j.gim.2022.05.001. Epub 2022 May 26. Genet Med. 2022. PMID: 35616647 Free PMC article.
Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.
Shickh S, Clausen M, Mighton C, Gutierrez Salazar M, Zakoor KR, Kodida R, Reble E, Elser C, Eisen A, Panchal S, Aronson M, Graham T, Armel SR, Morel CF, Fattouh R, Glogowski E, Schrader KA, Hamilton JG, Offit K, Robson M, Carroll JC, Isaranuwatchai W, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: reble e. BMJ Open. 2019 Oct 7;9(10):e031092. doi: 10.1136/bmjopen-2019-031092. BMJ Open. 2019. PMID: 31594892 Free PMC article.
Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings.
Sebastian A, Carroll JC, Vanstone M, Clausen M, Kodida R, Reble E, Mighton C, Shickh S, Aronson M, Eisen A, Elser C, Lerner-Ellis J, Kim RH, Bombard Y. Sebastian A, et al. Among authors: reble e. Eur J Hum Genet. 2022 May;30(5):595-603. doi: 10.1038/s41431-021-00876-z. Epub 2021 Mar 29. Eur J Hum Genet. 2022. PMID: 33776058 Free PMC article.
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.
Shickh S, Hirjikaka D, Clausen M, Kodida R, Mighton C, Reble E, Sam J, Panchal S, Aronson M, Graham T, Armel SR, Glogowski E, Elser C, Eisen A, Carroll JC, Shuman C, Seto E, Baxter NN, Scheer A, Shastri-Estrada S, Feldman G, Thorpe KE, Schrader KA, Lerner-Ellis J, Kim RH, Faghfoury H, Bombard Y. Shickh S, et al. Among authors: reble e. BMJ Open. 2022 Apr 29;12(4):e060899. doi: 10.1136/bmjopen-2022-060899. BMJ Open. 2022. PMID: 35487723 Free PMC article.
19 results