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Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY; FORGE Canada Consortium; Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT. Marcadier JL, et al. Among authors: smith am. Orphanet J Rare Dis. 2013 Jul 9;8:98. doi: 10.1186/1750-1172-8-98. Orphanet J Rare Dis. 2013. PMID: 23835272 Free PMC article.
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: smith a. 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.
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL; FORGE Canada Consortium; Majewski J, Boycott KM, Geraghty MT. McMillan HJ, et al. J Child Neurol. 2015 Jul;30(8):1037-43. doi: 10.1177/0883073814553272. Epub 2014 Oct 20. J Child Neurol. 2015. PMID: 25330800
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium; Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Sawyer SL, et al. Hum Mutat. 2014 Jan;35(1):45-9. doi: 10.1002/humu.22451. Hum Mutat. 2014. PMID: 24108619 Free PMC article.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith A, McBride S, Marcadier JL, Michaud J, Al-Dirbashi OY, Schwartzentruber J, Beaulieu CL, Katz SL; FORGE Canada Consortium; Majewski J, Bulman DE, Geraghty MT, Harper ME, Chakraborty P, Lines MA. Smith A, et al. JIMD Rep. 2016;30:73-79. doi: 10.1007/8904_2016_536. Epub 2016 Jun 16. JIMD Rep. 2016. PMID: 27306203 Free PMC article.
1,976 results