Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.
Chear CT et al.
Genes, 2022
36292785 (PubMed )
Supplement: genes-13-01900-s001.zip › genes-1944565-supplementary.pdf
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1
Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect.
Liu F et al.
Molecular Medicine Reports, 2018
EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study.
Kowal A et al.
Central European Journal of Urology, 2015
Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
Takamine Y et al.
American Journal of Medical Genetics. Part A, 2004
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL et al.
Nature Genetics, 2000
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