Associated Papers
Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein-Taybi syndrome.
Matsubara K et al.
Seizure, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.
Prada E et al.
Genes, 2025
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A et al.
Nature Medicine, 2024
Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome.
Vincent KM et al.
European Journal of Human Genetics : Ejhg, 2023
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E et al.
American Journal of Medical Genetics. Part A, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S et al.
Frontiers in Cell and Developmental Biology, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.
Wang L et al.
Clinical and Experimental Dermatology, 2019
Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer.
Liu D et al.
Nature Communications, 2017
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S et al.
Clinical Genetics, 2015
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins.
Li J et al.
Journal of Neurodevelopmental Disorders, 2013
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Isokpehi RD et al.
Bioinformatics and Biology Insights, 2010
Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N et al.
Journal of Biosciences, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Aberrant forms of histone acetyltransferases in human disease.
Van Beekum O et al.
Sub-cellular Biochemistry, 2007
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
Bartsch O et al.
Human Genetics, 2005
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
Bartsch O et al.
Journal of Medical Genetics, 2002