Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis.
Alanzi T et al.
European Journal of Human Genetics : Ejhg, 2020
Functional and structural studies of tolloid-like 1 mutants associated with atrial-septal defect 6.
Sieron L et al.
Bioscience Reports, 2019
Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3.
Xu W et al.
American Journal of Medical Genetics. Part A, 2012
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
Stańczak P et al.
European Journal of Human Genetics : Ejhg, 2009
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