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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists. Boycott K, et al. Among authors: knoppers bm. J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7. J Med Genet. 2015. PMID: 25951830 Free PMC article.
Key Implications of Data Sharing in Pediatric Genomics.
Rahimzadeh V, Schickhardt C, Knoppers BM, Sénécal K, Vears DF, Fernandez CV, Pfister S, Plon S, Terry S, Williams J, Williams MS, Cornel M, Friedman JM. Rahimzadeh V, et al. Among authors: knoppers bm. JAMA Pediatr. 2018 May 1;172(5):476-481. doi: 10.1001/jamapediatrics.2017.5500. JAMA Pediatr. 2018. PMID: 29554172
Paediatric biobanks: what makes them so unique?
Samuël J, Knoppers BM, Avard D. Samuël J, et al. Among authors: knoppers bm. J Paediatr Child Health. 2012 Feb;48(2):E1-3. doi: 10.1111/j.1440-1754.2011.02072.x. Epub 2011 Apr 29. J Paediatr Child Health. 2012. PMID: 21535284
476 results