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Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
Human Molecular Genetics|July 13, 1999
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh, J B Kum, K L Lunetta, et al.
Journal of Inherited Metabolic Disease|June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Molecular Genetics and Metabolism|August 2, 2016
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 familiesJörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 8, 2019
Health Care for Mitochondrial Disorders in Canada: A Survey of PhysiciansKaren Paik, Matthew A Lines, Pranesh Chakraborty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Archives of General Psychiatry|October 10, 2012
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesityCarl Ernst, Christian R Marshall, Yiping Shen, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
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