Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.

Genomic Sequencing Insights Into a Rare Case of High-Risk Diffuse Large B-cell Lymphoma (DLBCL) Associated With Rubinstein-Taybi Syndrome.

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome.

Report of Hidradenitis Suppurativa in an Individual Affected by Rubinstein-Taybi Syndrome.

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.

Exudative retinal detachment in a pediatric patient with Rubinstein-Taybi syndrome.

Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.

Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review.

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome.

[Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome].

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome.

A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

[Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome].

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

The relationship between neurodevelopmental transcriptional programs and insomnia: From Rubinstein-Taybi syndrome into energy metabolism.

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.

EP300 facilitates human trophoblast stem cell differentiation.

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

Dermatological findings in Rubinstein-Taybi Syndrome.

Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children.

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene.

Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene.

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.

Menke-Hennekam Syndrome: A Literature Review and a New Case Report.

Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.

Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.

Interstitial lung disease in children with Rubinstein-Taybi syndrome.

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

CHARGE syndrome and related disorders: a mechanistic link.

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons.

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.

Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature.

A clinical characteristics and genetic analysis of a case of Rubinstein-Taybi syndrome with glaucoma.

CREB-binding protein (CREBBP) and preeclampsia: a new promising target gene.

Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.

Rubinstein-Taybi syndrome in diverse populations.

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.

Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.

CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome.

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.

The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration.

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

[Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome].

Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells.

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Perthes disease: A new finding in Floating-Harbor syndrome.

Benign and malignant tumors in Rubinstein-Taybi syndrome.

[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].

Rubinstein-Taybi Syndrome and Epigenetic Alterations.

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.

Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

Rubinstein-Taybi syndrome - a window into follicular lymphoma biology.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice.

Rubinstein-Taybi Syndrome in a 19-years old boy.

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.

Meta-Analysis of Placental Transcriptome Data Identifies a Novel Molecular Pathway Related to Preeclampsia.

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.