Associated Papers
Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease.
Winter PS et al.
Biorxiv : the Preprint Server for Biology, 2024
38915726 (PubMed )
Supplement: media-3.xlsx › Sheet1
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic Genetics, 2024
Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.
Liu Y et al.
Cancers, 2022
36230837 (PubMed )
Supplement: cancers-14-04914-s001.zip › cancers-1924136-supplementary.xlsx › Supplemental_Table_4
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.
Guan B et al.
Frontiers in Oncology, 2022
35372080 (PubMed )
Supplement: Table_5.xlsx › table_S5
Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.
Hatipoğlu T et al.
Frontiers in Oncology, 2022
35795062 (PubMed )
Supplement: DataSheet_2.xlsx › FL_Cases_Variant_List__Table_S4
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
Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.
Pedrosa L et al.
Scientific Reports, 2021
33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Driver_Mutations
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
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data
Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.
Hirshfield KM et al.
The Oncologist, 2016
27566247 (PubMed )
Supplement: supp_the2016-0049_Supplemental_Tables.pdf
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
Wincent J et al.
Molecular Genetics & Genomic Medicine, 2016
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
Inactivating mutations of acetyltransferase genes in B-cell lymphoma.
Pasqualucci L et al.
Nature, 2011
21390126 (PubMed )
Supplement: NIHMS256120-supplement-Supplementary_Figures_and_Tables.pdf
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A et al.
Bmc Medical Genetics, 2006
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