Associated Papers
VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's disease.
Malfer L et al.
Parkinsonism & Related Disorders, 2026
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 › S3Tab_EDS-917_DNA_variants
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11
Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
Smolders S et al.
Acta Neuropathologica Communications, 2021
33579389 (PubMed )
Supplement: 40478_2021_1121_MOESM1_ESM.docx
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN et al.
Cold Spring Harbor Molecular Case Studies, 2019
Whole-exome sequencing for variant discovery in blepharospasm.
Tian J et al.
Molecular Genetics & Genomic Medicine, 2018
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