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Did you mean reale e[au] (204 results)?
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Kodida R, et al. Among authors: reble e. J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22. J Med Genet. 2023. PMID: 37217257 Review.
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening.
Adi-Wauran E, Clausen M, Shickh S, Gagliardi AR, Denburg A, Oldfield LE, Sam J, Reble E, Krishnapillai S, Regier DA, Baxter NN, Dawson L, Penney LS, Foulkes W, Basik M, Sun S, Schrader KA, Karsan A, Pollett A, Pugh TJ; CHARM consortium; Kim RH, Bombard Y. Adi-Wauran E, et al. Among authors: reble e. Eur J Hum Genet. 2024 Feb;32(2):176-181. doi: 10.1038/s41431-023-01473-y. Epub 2023 Oct 11. Eur J Hum Genet. 2024. PMID: 37821757
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.
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Sam J, Reble E, Kodida R, Shaw A, Clausen M, Salazar MG, Shickh S, Mighton C, Carroll JC, Armel SR, Aronson M, Capo-Chichi JM, Cohn I, Eisen A, Elser C, Graham T, Ott K, Panchal S, Piccinin C, Schrader KA, Kim RH, Lerner-Ellis J, Bombard Y; Incidental Genomics Study Team. Sam J, et al. Among authors: reble e. Hum Genet. 2022 Dec;141(12):1875-1885. doi: 10.1007/s00439-022-02466-5. Epub 2022 Jun 23. Hum Genet. 2022. PMID: 35739291
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.
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.
16 results