Associated Papers
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Contrò G et al.
Clinical Genetics, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C et al.
Nature Genetics, 2025
Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.
Waheed-Ullah Q et al.
Journal of Anatomy, 2025
Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review.
Wojciechowska K et al.
Annals of Agricultural and Environmental Medicine : Aaem, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
Mavura Y et al.
Npj Genomic Medicine, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Morison LD et al.
European Journal of Human Genetics : Ejhg, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN et al.
Circulation. Genomic and Precision Medicine, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Chevarin M et al.
Journal of Medical Genetics, 2020
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
Yakubov R et al.
Journal of Medical Case Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Trinh J et al.
Journal of Neurodevelopmental Disorders, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
Uehara T et al.
European Journal of Medical Genetics, 2018
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A et al.
Nature Genetics, 2016