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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. Okur V, et al. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. NPJ Genom Med. 2021. PMID: 34876591 Free PMC article.
The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results.
Bombard Y, Clausen M, Mighton C, Carlsson L, Casalino S, Glogowski E, Schrader K, Evans M, Scheer A, Baxter N, Hamilton JG, Lerner-Ellis J, Offit K, Robson M, Laupacis A. Bombard Y, et al. Eur J Hum Genet. 2018 Jul;26(7):984-995. doi: 10.1038/s41431-018-0144-0. Epub 2018 Apr 27. Eur J Hum Genet. 2018. PMID: 29703952 Free PMC article.
Variant classification changes over time in BRCA1 and BRCA2.
Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J. Mighton C, et al. Genet Med. 2019 Oct;21(10):2248-2254. doi: 10.1038/s41436-019-0493-2. Epub 2019 Apr 11. Genet Med. 2019. PMID: 30971832 Free 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. BMJ Open. 2019 Oct 7;9(10):e031092. doi: 10.1136/bmjopen-2019-031092. BMJ Open. 2019. PMID: 31594892 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. 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.
107 results