Associated Papers
Wilms tumor primary cultures capture phenotypic heterogeneity and facilitate preclinical screening.
Götz L et al.
Translational Oncology, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.
Prada E et al.
Genes, 2025
Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.
Pomares AA et al.
Plos One, 2025
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic Genetics, 2024
Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.
Shanahan RM et al.
Pediatric Neurosurgery, 2024
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto Y et al.
Clinical Genetics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome.
Shen J et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2020
High-risk blastemal Wilms tumor can be modeled by 3D spheroid cultures in vitro.
Wegert J et al.
Oncogene, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S et al.
Frontiers in Cell and Developmental Biology, 2020
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Pérez-Grijalba V et al.
Molecular Genetics & Genomic Medicine, 2019
A CRISPR/Cas9 Functional Screen Identifies Rare Tumor Suppressors.
Katigbak A et al.
Scientific Reports, 2016
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
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
Schorry EK et al.
American Journal of Medical Genetics. Part A, 2008
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.
Udaka T et al.
Congenital Anomalies, 2005
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
Coupry I et al.
Journal of Medical Genetics, 2002