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Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW. Marshall CR, et al. Among authors: farrell sa. BMC Genomics. 2015;16 Suppl 1(Suppl 1):S12. doi: 10.1186/1471-2164-16-S1-S12. Epub 2015 Jan 15. BMC Genomics. 2015. PMID: 25923536 Free PMC article.
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Gardiner K, et al. Am J Med Genet A. 2012 Jun;158A(6):1388-94. doi: 10.1002/ajmg.a.35358. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585446
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Lebo MS, et al. Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726806 Free article.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
Fetus with renal agenesis and Smith-Lemli-Opitz syndrome.
Nowaczyk MJ, Eng B, Waye JS, Farrell SA, Sirkin WL. Nowaczyk MJ, et al. Among authors: farrell sa. Am J Med Genet A. 2003 Jul 15;120A(2):305-7. doi: 10.1002/ajmg.a.20004. Am J Med Genet A. 2003. PMID: 12833423 No abstract available.
120 results