Associated Papers
Early-onset multivalvular disease caused by a missense variant in lamin A/C.
Janin A et al.
Hgg Advances, 2025
40783787 (PubMed )
Supplement: mmc1.pdf
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13
The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.
Iske J et al.
Journal of Clinical Medicine, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.1-Class3__variants
Genetic background of mitral valve prolapse.
Guicciardi NA et al.
Reviews in Cardiovascular Medicine, 2022
Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
Wu SW et al.
Italian Journal of Pediatrics, 2021
34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1
Report of a rare case of congenital mitral valve prolapse with chronic kidney disease--reconsidered genotype-phenotypic correlations.
Sun L et al.
Molecular Genetics & Genomic Medicine, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.
Lin PC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Genetics of syndromic and non-syndromic mitral valve prolapse.
Le Tourneau T et al.
Heart (british Cardiac Society), 2018
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.
Clemenceau A et al.
Molecular Genetics & Genomic Medicine, 2018
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