Associated Papers
Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.
Xue H et al.
Scientific Reports, 2025
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Reis LM et al.
Genes, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
Cui X et al.
Molecular Genetics & Genomic Medicine, 2022
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya A et al.
Journal of Human Genetics, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
van den Akker WMR et al.
Clinical Genetics, 2018
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
Hamilton MJ et al.
Journal of Medical Genetics, 2018
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Bostwick BL et al.
Genome Medicine, 2017
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