Associated Papers
Optimizing Next Generation Sequencing for Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease.
Ma D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
Huynh VT et al.
Kidney International, 2020
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Cornec-Le Gall E et al.
American Journal of Human Genetics, 2018
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.
Ma X et al.
Nature, 2018
29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5
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