Associated Papers
The genetic landscape of autism spectrum disorder in the Middle Eastern population.
Al-Sarraj Y et al.
Frontiers in Genetics, 2024
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S et al.
Clinical Genetics, 2015
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf
Epigenetic mechanisms of Rubinstein-Taybi syndrome.
Park E et al.
Neuromolecular Medicine, 2014
Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N et al.
Journal of Biosciences, 2010
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Select a paper to view details