Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).
Watanabe D et al.
European Journal of Medical Genetics, 2025
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
Leduc F et al.
European Journal of Medical Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.
Lu G et al.
Frontiers in Molecular Neuroscience, 2022
36568277 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.
Alter S et al.
Journal of Medical Genetics, 2021
Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease.
Massadeh S et al.
Genes, 2021
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.
Shaheen R et al.
Journal of Medical Genetics, 2015
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