Associated Papers
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Ansari-Pour N et al.
Blood, 2023
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
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
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.
Nassar AH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.
Merk DJ et al.
Developmental Cell, 2018
MOF as an evolutionarily conserved histone crotonyltransferase and transcriptional activation by histone acetyltransferase-deficient and crotonyltransferase-competent CBP/p300.
Liu X et al.
Cell Discovery, 2017
Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans.
Oh E et al.
Plos One, 2017
Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.
Margolskee E et al.
Oncotarget, 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
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
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
Bartsch O et al.
Human Genetics, 2005
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
Kalkhoven E et al.
Human Molecular Genetics, 2003