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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.American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.Journal of Medical Genetics|April 20, 2021
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics RepositoryChloe Mighton, Amanda C Smith, Justin Mayers, et al.NPJ Precision Oncology|May 7, 2026
A roadmap for establishing institutional readiness for cellular therapies targeting solid tumours and autoimmune diseasesSarah Childs, David Ma, Elizabeth Houghton, et al.Zebrafish|June 2, 2016
Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp VirusDavid Hanwell, Sarah A Hutchinson, Chereen Collymore, et al.Pageof 6