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

Successful Treatment of Multirefractory Immune Thrombocytopenia in Rubinstein-Taybi Syndrome With Combined Rituximab and Eltrombopag.

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.

Absence seizures with ictal yawning in Rubinstein-Taybi syndrome.

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.

Decoding Multiple Keloids: A Gateway to Diagnosing Rubinstein-Taybi Syndrome.

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

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

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.

DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome.

Chronic Dacryocystitis With Elevated IgG4-Plasma Cells in a Patient With Rubinstein-Taybi Syndrome: An IgG4-Related Disease?

The complex network of p300/CBP regulation: Interactions, posttranslational modifications, and therapeutic implications.

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

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Executive function deficits as risk markers for psychopathology and autism related traits in cornelia de lange and rubinstein-Taybi syndromes.

Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes.

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.

Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders.

Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review.

Syndromes Associated with Hair Disorders.

[Anesthesia in Rubinstein-Taybi syndrome in childhood].

Challenges in Prenatal Ultrasound Diagnosis of Rubinstein-Taybi Syndrome: A Case Report and Comprehensive Literature Review.

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Upper Airway Morphologic Changes in Rubinstein-Taybi Syndrome After Orthognathic Surgery: A Case Report.

Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein-Taybi syndrome.

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

Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues.

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.

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.

Anaesthetic Management of a patient with Rubinstein Taybi Syndrome.

Two Cases of Rubinstein-Taybi Syndrome With Retinal Detachment.

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

Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.

Rubinstein-Taybi Syndrome With Severe Eczema, Recurrent Infections, and Hyper IgE Profile Responsive to Dupilumab Treatment.

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

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

Duane retraction syndrome associated with EP300 variant of Rubinstein-Taybi syndrome.

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

Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome.

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

History Page: Leaders in MSK Radiology: Hooshang Taybi, 1919-2006.

Prenatal Sonographic Features of Rubinstein-Taybi Syndrome-A Small Case Series of a Rare Syndrome.

Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.

Duane syndrome associated with Rubinstein-Taybi syndrome type II.

Corrigendum to "Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with rubinstein taybi syndrome" [Stem Cell Res. 78 (2024) 103456].

Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.

Epigenetics in rare neurological diseases.

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

Comprehensive dental care in patient with Rubinstein-Taybi syndrome: A 3-year case study using progressive desensitization techniques and oral sedation.

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

The functional secondary effect after an integrated rehabilitative intervention to learn reading and writing in a girl with Rubinstein-Taybi syndrome.

Human Genetics of Hypoplastic Left Heart Syndrome.

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

Rubinstein-Taybi syndrome with ileocecal volvulus: A case report.

Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes.

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.

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

Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome.

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].

Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.

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

Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response.

A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature.

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

Floating-Harbor syndrome with chorioretinal colobomas.

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways.

A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome.

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome.

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.

General anesthetic management for dental surgery in an adult patient with 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.

[A case of Rubinstein-Taybi syndrome caused by a variant of EP300 gene].

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

Evaluation of Ayres Sensory Integration® Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report.

Early Fetal Corpus Callosum: Demonstrating Normal Growth and Detecting Pathologies in Early Pregnancy.

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

CBP and p300 Jointly Maintain Neural Progenitor Viability but Play Unique Roles in the Differentiation of Neural Lineages.

The Executive Function Account of Repetitive Behavior: Evidence From Rubinstein-Taybi Syndrome.

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

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.

[A case of Menke-Hennekam syndrome-1 caused by CREBBP gene variation].

Multimodal Imaging of Cone Dysfunction in Rubinstein-Taybi Syndrome.

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

Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study.

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein-Taybi syndrome.

A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features.

Rubinstein-Taybi Syndrome: Presentation in the First Month of Life.

The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.

Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant.

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

Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes.

Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant.

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.

KMT2A: Umbrella Gene for Multiple Diseases.

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.

Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders.

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

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.

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

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.

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

Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein-Taybi Intellectual Disability Syndromes.

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.

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

Oral and cephalometric study in Brazilian Rubinstein-Taybi syndrome patients.

Interstitial lung disease in children with Rubinstein-Taybi syndrome.

Severe persistent pulmonary hypertension in a neonate with Rubinstein-Taybi syndrome accompanied by triple X syndrome.

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.

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

Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child 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.

A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages.

CHARGE syndrome and related disorders: a mechanistic link.

Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Multiple bullous pilomatricomas in a patient with Rubinstein-Taybi syndrome.

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.

Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient.

Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.

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

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family.

Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case.

Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability.

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.

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

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

Update and Potential Opportunities in CBP [Cyclic Adenosine Monophosphate (cAMP) Response Element-Binding Protein (CREB)-Binding Protein] Research Using Computational Techniques.

Barrett's Esophagus in Rubinstein-Taybi Syndrome.

Modeling suggests combined-drug treatments for disorders impairing synaptic plasticity via shared signaling pathways.

Rubinstein-Taybi syndrome.

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

Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label".

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

Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 mice.

Rubinstein-Taybi syndrome in diverse populations.

Paraovarian Cyst Torsion in a Patient with Rubinstein-Taybi Syndrome: A Case Report.

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modifications.

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.

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

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.

Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus.

Rubinstein-Taybi Syndrome: A Rare Case Report.

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery.

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

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

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

An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.

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.

Non-vascularized toe phalanx transfer for correction of severe clinodactyly of the thumb in Rubinstein-Taybi syndrome.

KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.

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

A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined.

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

Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?

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

A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.

[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.

Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease.

Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.

Two cases of neuroangiostrongyliasis: A rare disease because rarely considered or rarely diagnosed?

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.

Anaesthetic implications of Rubinstein-Taybi syndrome.

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.

A tale of subcutaneous nodules, broad thumbs, supernumerary teeth, and intellectual disability in a patient.