Associated Papers
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C et al.
Bmc Genomics, 2023
37501076 (PubMed )
Supplement: 12864_2023_9505_MOESM1_ESM.xlsx › Summary
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
Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder.
Cui D et al.
Frontiers in Genetics, 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
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
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains.
Wiel L et al.
Human Mutation, 2019
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
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