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Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene.
Henderson CM, Fink SL, Bassyouni H, Argiropoulos B, Brown L, Laha TJ, Jackson KJ, Lewkonia R, Ferreira P, Hoofnagle AN, Marcadier JL. Henderson CM, et al. Among authors: marcadier jl. N Engl J Med. 2019 Mar 21;380(12):1150-1157. doi: 10.1056/NEJMoa1807841. N Engl J Med. 2019. PMID: 30893535 Free PMC article.
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. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240
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. Among authors: marcadier jl. JIMD Rep. 2016;30:73-79. doi: 10.1007/8904_2016_536. Epub 2016 Jun 16. JIMD Rep. 2016. PMID: 27306203 Free PMC article.
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. 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.
23 results