Associated Papers
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 2023
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32398770 (PubMed )
Supplement: 41436_2020_816_MOESM1_ESM.docx
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