Associated Papers
Generation of human induced pluripotent stem cell lines carrying a heterozygous and homozygous PRKD1 c.1774G > A genetic variant causing syndromic congenital defects.
Witthoff F et al.
Stem Cell Research, 2026
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED).
Watanabe D et al.
European Journal of Medical Genetics, 2025
Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.
Xu C et al.
Genome Research, 2024
39060028 (PubMed )
Supplement: Supplemental_Table_S8.xlsx › Table_S8
Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.
Waheed-Ullah Q et al.
Journal of Anatomy, 2024
38419169 (PubMed )
Supplement: JOA-245-70-s001.pdf
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
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature.
Alghaith FA et al.
American Journal of Medical Genetics. Part A, 2023
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
A zebrafish forward genetic screen identifies an indispensable threonine residue in the kinase domain of PRKD2.
Giardoglou P et al.
Biology Open, 2021
Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Vineeth VS et al.
Gene, 2018
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A et al.
Nature Genetics, 2016
27479907 (PubMed )
Supplement: NIHMS69098-supplement-Supplementary_figures.pdf
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