Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Tung ML et al.
Genes, 2022
36140816 (PubMed )
Supplement: genes-13-01649-s001.zip › Supplementary_Table_S4_list_of_VUS_on_WGS_for_craniosynostosis.xlsx › VariantTable_27
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A et al.
Journal of Human Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Hedgehog receptor function during craniofacial development.
Xavier GM et al.
Developmental Biology, 2016
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
Umm-E-Kalsoom et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2010
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
Valencia M et al.
Human Mutation, 2009
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
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
Ulucan H et al.
Bmc Medical Genetics, 2008
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Tompson SW et al.
Human Genetics, 2007
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Ye X et al.
Human Genetics, 2006
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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