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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium; Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. McMillan HJ, et al. Among authors: schwartzentruber j. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90. Orphanet J Rare Dis. 2012. PMID: 23181892 Free PMC article.
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
Huang L, Warman-Chardon J, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM. Huang L, et al. Among authors: schwartzentruber j. Orphanet J Rare Dis. 2022 Mar 29;17(1):143. doi: 10.1186/s13023-022-02297-7. Orphanet J Rare Dis. 2022. PMID: 35351177 Free PMC article. No abstract available.
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: schwartzentruber j. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM, Dyment DA. Chardon JW, et al. Among authors: schwartzentruber j. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26. Clin Genet. 2015. PMID: 25589244
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium; Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. McDonell LM, et al. Among authors: schwartzentruber j. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542699 Free PMC article.
Intellectual disability associated with a homozygous missense mutation in THOC6.
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium; Majewski J, Bulman DE, Parboosingh JS, Boycott KM. Beaulieu CL, et al. Among authors: schwartzentruber j. Orphanet J Rare Dis. 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62. Orphanet J Rare Dis. 2013. PMID: 23621916 Free PMC article.
114 results