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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: beaulieu cl. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.
Whole-exome sequencing expands the phenotype of Hunter syndrome.
Nikkel SM, Huang L, Lachman R, Beaulieu CL, Schwartzentruber J, Majewski J, Geraghty MT, Boycott KM; FORGE Canada Consortium. Nikkel SM, et al. Among authors: beaulieu cl. Clin Genet. 2014 Aug;86(2):172-6. doi: 10.1111/cge.12236. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23844659
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ; FORGE Canada Consortium; Majewski J, Bulman DE, Levade T, Boycott KM. Dyment DA, et al. Among authors: beaulieu cl. Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21. Clin Genet. 2014. PMID: 24164096
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada. Dyment DA, et al. Among authors: beaulieu cl. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium; Innes AM, Boycott KM. Balci TB, et al. Among authors: beaulieu cl. Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13. Clin Genet. 2017. PMID: 28170084
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: beaulieu cl. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA; FORGE Canada Consortium; Majewski J, Bulman D, Boycott KM, Dyment DA. Venkateswaran S, et al. Among authors: beaulieu cl. Epilepsia. 2014 Jul;55(7):e75-9. doi: 10.1111/epi.12663. Epub 2014 Jun 5. Epilepsia. 2014. PMID: 24903190 Free article.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium; Friedman JM, Michaud JL, Boycott KM. Beaulieu CL, et al. Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003. Am J Hum Genet. 2014. PMID: 24906018 Free PMC article.
68 results