A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.Article de revue
Front Neurol, 12 , 2021.
A founder mutation in the gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.Article de revue
JIMD Rep, 59 (1), 2021.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.Article de revue
Ann Neurol, 89 (3), 2021.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.Article de revue
BMC Neurol, 20 (1), 2020.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Article de revue
Eur J Hum Genet, 28 (10), 2020.
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.Article de revue
Neuromuscul Disord, 30 (6), 2020.
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.Article de revue
Mol Genet Genomic Med, 7 (12), 2019.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.Article de revue
Am J Hum Genet, 105 (2), 2019.
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.Article de revue
Ann Neurol, 86 (1), 2019.
Population genetics of Latvians in the context of admixture between north-eastern European ethnic groupsArticle de revue
Proc Latv Acad Sci B Nat Exact Appl Sci, 72 (3), 2018.