• A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity?
• Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice
• 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 of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome
• Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
• Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish
• Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus
• Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
• DHPLC in clinical molecular diagnostic services
• Dominant inheritance of a syndrome similar to Rubinstein-Taybi
• Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series
• EP300 facilitates human trophoblast stem cell differentiation
• Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
• Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders
• Genetic transcription in eukaryotes: from transcriptional factors to disease
• Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes
• Medial fronto-facial capillary malformations
• Multiple pilomatricomas in association with trisomy 9
• Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice
• Oro-facio-dental findings of rubinstein-taybi syndrome as a useful diagnostic feature
• p300 and CBP as transcriptional regulators and targets of oncogenic events
• Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
• Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology
• Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study
• Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modifications
• Role of diagnostic imaging in Rubinstein-Taybi syndrome. Personal experience with 8 cases
• Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
• Rubinstein-Taybi syndrome in Chinese population with four novel mutations
• Rubinstein-Taybi syndrome with agenesis of corpus callosum
• Syndromes of disordered chromatin remodeling
• The role of genetics in the establishment and maintenance of the epigenome
• Transcription factors in disease
• Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome
• Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation