Associated Papers
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic 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
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.
Rusch M et al.
Nature Communications, 2018
30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM10_ESM.xlsx › 7A.ALL_PATHOLOGIC_FINDINGS
The genomic landscape of hypodiploid acute lymphoblastic leukemia.
Holmfeldt L et al.
Nature Genetics, 2013
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
Lopez-Atalaya JP et al.
Journal of Medical Genetics, 2012
Genomic profiling of B-progenitor acute lymphoblastic leukemia.
Mullighan CG
Best Practice & Research. Clinical Haematology, 2011
CREBBP mutations in relapsed acute lymphoblastic leukaemia.
Mullighan CG et al.
Nature, 2011
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
Schorry EK et al.
American Journal of Medical Genetics. Part A, 2008
Select a paper to view details