Publications

Hennekam RCM. Rubinstein–Taybi Syndrome. Eur. J. Hum. Genet. 2006, 14, 981–985. PMID: 16868563.

Bartsch O et al. Inheritance and Variable Expression in Rubinstein–Taybi Syndrome.Am. J. Med. Genet. A. 2010, 152A, 2254–2261. PMID: 20684013.

Rubinstein JH. Broad Thumb-Hallux (Rubinstein-Taybi) Syndrome 1957–1988.Am. J. Med. Genet. 1990, 37, 3–16. PMID: 2118774.

Rubinstein JH & Taybi H. Broad Thumbs and Toes and Facial Abnormalities. A Possible Mental Retardation Syndrome.Am. J. Dis. Child. 1963, 105, 588–608. PMID: 13983033.

Hennekam RCM et al. Rubinstein-Taybi Syndrome in the Netherlands. Am. J. Med. Genet. 1990, 37, 17–29. PMID: 2118773.

Milani D et al. Rubinstein-Taybi Syndrome: Clinical Features, Genetic Basis, Diagnosis, and Management. Ital. J. Pediatr. 2015, 41, 4. PMID: 25599811.

Petrij F et al. Rubinstein-Taybi Syndrome Caused by Mutations in the Transcriptional Co-Activator CBP.Nature 1995, 376, 348–351. PMID: 7630403.

Roelfsema JH et al. Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease. Am. J. Hum. Genet. 2005, 76, 572–580. PMID: 15706485.

Van-Gils J et al. Fetal Phenotype of Rubinstein-Taybi Syndrome Caused by CREBBP Mutations.Clin. Genet. 2019, 95, 420–426. PMID: 30633342.

Beets L, Rodríguez-Fonseca C & Hennekam RC. Growth Charts for Individuals with Rubinstein–Taybi Syndrome. Am. J. Med. Genet. A 2014, 164, 2300–2309. PMID: 24989455.

Pérez-Grijalba V et al. New Insights into Genetic Variant Spectrum and Genotype- Phenotype Correlations of Rubinstein-Taybi Syndrome in 39 CREBBP-Positive Patients.Mol. Genet. Genomic Med. 2019, 7, e972. PMID: 31566936.

Ajmone PF et al. Rubinstein–Taybi Syndrome: New Neuroradiological and Neuropsychiatric Insights from a Multidisciplinary Approach.Am. J. Med. Genet. B Neuropsychiatr. Genet. 2018, 177, 406–415. PMID: 29637745.

Galéra C et al. Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome.J. Autism Dev. Disord. 2009, 39, 1252–1260. PMID: 19350377.

Van Gils J et al. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes (Basel). 2021 Jun 24;12(7):968. PMID: 34202860.