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Life Science Alliance|March 13, 2019
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesTian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophyJaya Punetha, Ender Karaca, Alper Gezdirici, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3Ryan E Lamont, Jc Loredo-Osti, Nicole M Roslin, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Human Molecular Genetics|October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changesNoelle Sterling, Anna R Duncan, Raehee Park, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathyVandana Shashi, Kelly Schoch, Rebecca Ganetzky, et al.
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