Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S4Tab_DD-166_DNA_variants
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS et al.
Brain : a Journal of Neurology, 2022
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Lujan SA et al.
Genome Biology, 2020
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia.
Ng YS et al.
Neurology. Genetics, 2017
Mitochondrial pathology in progressive cerebellar ataxia.
Bargiela D et al.
Cerebellum & Ataxias, 2015
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