Associated Papers
Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.
Tang Y et al.
Human Molecular Genetics, 2026
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK et al.
Genes, 2023
38003033 (PubMed )
Supplement: genes-14-02091-s001.zip › genes-2581930-supplementary › Supplemental.pdf
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
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E et al.
American Journal of Medical Genetics. Part A, 2020
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.
Yu S et al.
Molecular Genetics & Genomic Medicine, 2019
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