• <em>KMT2A</em>: Umbrella Gene for Multiple Diseases
• 7q35q36.3 deletion and concomitant 20q13.2q13.33 duplication in a newborn: familiar case
• A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome
• A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features
• A case of Menke-Hennekam syndrome-1 caused by CREBBP gene variation
• A case of Rubinstein-Taybi syndrome caused by a variant of EP300 gene
• A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature
• A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation
• 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 matche
• A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome
• Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes
• Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery
• Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
• Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals
• Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
• Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
• CBP and p300 Jointly Maintain Neural Progenitor Viability but Play Unique Roles in the Differentiation of Neural Lineages
• CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
• Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
• CHARGE syndrome and related disorders: a mechanistic link
• Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome
• Clinical description and mutational profile of a Moroccan series of patients 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
• Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the <em>CREBBP</em> gene
• Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
• Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
• 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]
• De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
• Dermatological findings in Rubinstein-Taybi Syndrome
• Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
• Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
• Disease-associated c-MYC downregulation in human disorders of transcriptional regulation
• Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
• DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
• Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series
• Early Fetal Corpus Callosum: Demonstrating Normal Growth and Detecting Pathologies in Early Pregnancy
• EP300 facilitates human trophoblast stem cell differentiation
• Epigenetics in rare neurological diseases
• Evaluation of Ayres Sensory Integration() Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report
• Evaluation of Ayres Sensory Integration^® Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report
• Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders
• Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
• Floating-Harbor syndrome with chorioretinal colobomas
• General anesthetic management for dental surgery in an adult patient with Rubinstein-Taybi syndrome
• Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome
• Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons
• Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome
• Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel <em>CREBBP</em> Variant
• 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
• Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature
• High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
• Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients
• Human Genetics of Hypoplastic Left Heart Syndrome
• Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype
• Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein-Taybi syndrome
• Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly
• Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome
• Interconnected Gene Networks Underpin the Clinical Overlap of <em>HNRNPH1</em>-Related and Rubinstein-Taybi Intellectual Disability Syndromes
• Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein-Taybi Intellectual Disability Syndromes
• Interstitial lung disease in children with Rubinstein-Taybi syndrome
• Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes
• Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
• Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome
• Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
• Menke-Hennekam Syndrome: A Literature Review and a New Case Report
• 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
• Mullerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways
• Multimodal Imaging of Cone Dysfunction in Rubinstein-Taybi Syndrome
• Multiple bullous pilomatricomas in a patient with Rubinstein-Taybi syndrome
• Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome
• Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience
• Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature
• Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children
• NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
• Oral and cephalometric study in Brazilian Rubinstein-Taybi syndrome patients
• Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome
• Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
• Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study
• Rubinstein-Taybi syndrome
• Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel <em>CREBBP</em> Gene Pathogenic Variant
• Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
• Rubinstein-Taybi syndrome with ileocecal volvulus: A case report
• Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
• Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
• Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function
• Rubinstein-Taybi Syndrome: Presentation in the First Month of Life
• Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient
• Severe persistent pulmonary hypertension in a neonate with Rubinstein-Taybi syndrome accompanied by triple X syndrome
• Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response
• The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature
• The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes
• The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study
• The Executive Function Account of Repetitive Behavior: Evidence From Rubinstein-Taybi Syndrome
• The functional secondary effect after an integrated rehabilitative intervention to learn reading and writing in a girl with Rubinstein-Taybi syndrome
• The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
• The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome
• The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the <em>CREBBP</em> Gene
• The relationship between neurodevelopmental transcriptional programs and insomnia: From Rubinstein-Taybi syndrome into energy metabolism
• Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient