Associated Papers
Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.
Zhang Q et al.
Frontiers in Genetics, 2025
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_
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
Parenti I et al.
Frontiers in Neuroscience, 2021
Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.
He CY et al.
Clinical and Translational Medicine, 2020
32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Boissel S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P et al.
American Journal of Medical Genetics. Part A, 2016
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Negri G et al.
Human Mutation, 2016
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
Woods SA et al.
American Journal of Medical Genetics. Part A, 2014
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