Published in Am J Hum Genet on February 10, 2005
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Differences in specificity and selectivity between CBP and p300 acetylation of histone H3 and H3/H4. Biochemistry (2013) 1.17
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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet (2005) 1.16
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Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. J Autism Dev Disord (2009) 0.92
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The roles of post-translational modifications in the context of protein interaction networks. PLoS Comput Biol (2015) 0.85
Deficiency of the chromatin regulator BRPF1 causes abnormal brain development. J Biol Chem (2015) 0.84
Distinct embryonic expression and localization of CBP and p300 histone acetyltransferases at the mouse alphaA-crystallin locus in lens. J Mol Biol (2007) 0.83
Genetic interaction between mutations in c-Myb and the KIX domains of CBP and p300 affects multiple blood cell lineages and influences both gene activation and repression. PLoS One (2013) 0.83
Reduction of sample heterogeneity through use of population substructure: an example from a population of African American families with sarcoidosis. Am J Hum Genet (2006) 0.83
Acetyltransferases (HATs) as targets for neurological therapeutics. Neurotherapeutics (2013) 0.83
Spatiotemporal expression of histone acetyltransferases, p300 and CBP, in developing embryonic hearts. J Biomed Sci (2009) 0.82
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. BMC Med Genet (2013) 0.81
Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report. J Med Case Rep (2012) 0.81
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High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. Eur J Hum Genet (2010) 0.79
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Emerging roles of epigenetic mechanisms in Parkinson's disease. Funct Integr Genomics (2011) 0.78
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet (2015) 0.78
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. Mol Genet Genomic Med (2015) 0.78
Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant Behavior. Genet Res Int (2014) 0.77
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation. Int J Mol Sci (2015) 0.77
Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. J Neurodev Disord (2015) 0.77
Mutation burden of rare variants in schizophrenia candidate genes. PLoS One (2015) 0.77
Chromatin deregulation in disease. Chromosoma (2015) 0.76
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The defining DNA methylation signature of Floating-Harbor Syndrome. Sci Rep (2016) 0.76
Loss of p300 accelerates MDS-associated leukemogenesis. Leukemia (2016) 0.75
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum. Clin Case Rep (2016) 0.75
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. Mol Syndromol (2015) 0.75
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. J Pediatr Genet (2015) 0.75
Lysine Acetylation and Deacetylation in Brain Development and Neuropathies. Genomics Proteomics Bioinformatics (2017) 0.75
Insights into synaptic function from mouse models of human cognitive disorders. Future Neurol (2011) 0.75
Infantile glaucoma in Rubinstein-Taybi syndrome. Eye (Lond) (2012) 0.75
Epigenetic regulation and chromatin remodeling in learning and memory. Exp Mol Med (2017) 0.75
Fetal stress-mediated hypomethylation increases the brain susceptibility to hypoxic-ischemic injury in neonatal rats. Exp Neurol (2015) 0.75
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. Eur J Hum Genet (2016) 0.75
Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins. J Neurodev Disord (2013) 0.75
Inhibition of p300 histone acetyltransferase activity in palate mesenchyme cells attenuates Wnt signaling via aberrant E-cadherin expression. Exp Cell Res (2016) 0.75
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. BMC Med Genet (2016) 0.75
Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry. Sci Rep (2015) 0.75
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. BMJ Case Rep (2009) 0.75
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. Eur J Hum Genet (2016) 0.75
Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice. PLoS One (2016) 0.75
Deep Genetic Connection Between Cancer and Developmental Disorders. Hum Mutat (2016) 0.75
The virtue of just enough stress: a molecular model. Trans Am Clin Climatol Assoc (2012) 0.75
Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders. Neural Plast (2016) 0.75
FGFR2 mutation in 46,XY sex reversal with craniosynostosis. Hum Mol Genet (2015) 0.75
A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome. Mol Syndromol (2017) 0.75
Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes. J Autism Dev Disord (2017) 0.75
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum Genet (2017) 0.75
Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome. J Autism Dev Disord (2017) 0.75
MOF as an evolutionarily conserved histone crotonyltransferase and transcriptional activation by histone acetyltransferase-deficient and crotonyltransferase-competent CBP/p300. Cell Discov (2017) 0.75
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet (2017) 0.75
Controlling Epithelial to Mesenchymal Transition through Acetylation of Histone H2BK5. J Nat Sci (2017) 0.75
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Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron (2004) 5.35
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FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet (2000) 1.00
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The face signature of fibrodysplasia ossificans progressiva. Am J Med Genet A (2012) 1.62
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