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
Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.
Wang J et al.
Frontiers in Genetics, 2025
40406060 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table2
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
Screening of genes interacting with high myopia and neuropsychiatric disorders.
Liu Y et al.
Scientific Reports, 2023
37884635 (PubMed )
Supplement: 41598_2023_45463_MOESM1_ESM.zip › Supplementary-PDF › Supplementary_Table_5.pdf
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N et al.
Journal of Human Genetics, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM19_ESM.xlsx › Supplementary_Data_16
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.
Simpson MA et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2009
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