Associated Papers
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
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
Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect.
Liu F et al.
Molecular Medicine Reports, 2018
Complex patterns of genomic admixture within southern Africa.
Petersen DC et al.
Plos Genetics, 2013
23516368 (PubMed )
Supplement: pgen.1003309.s016.pdf
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
Rodriguez-Flores JL et al.
Plos One, 2012
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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