Associated Papers
Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.
Zhou Y et al.
Science Advances, 2025
Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome.
Zheng J et al.
Scientific Reports, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U et al.
Journal of Medical Genetics, 2024
Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.
León-Madero LF et al.
Molecular Genetics & Genomic Medicine, 2024
Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort.
Li M et al.
Bmc Pediatrics, 2023
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M et al.
Journal of Medical Genetics, 2023
Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions.
Da Silva JD et al.
Genetics in Medicine Open, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.
Zhang Z et al.
Gene, 2012
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2012
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
Rudnik-Schöneborn S et al.
Molecular Syndromology, 2011
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2010
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Ruiz-Perez VL et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Tompson SW et al.
Human Genetics, 2007
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Ruiz-Perez VL et al.
American Journal of Human Genetics, 2003