Associated Papers
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
Low-grade follicular lymphoma with interferon regulatory factor-4 rearrangement: Expanding the spectrum of interferon regulatory factor-4-rearranged lymphomas.
Sakhdari A et al.
Ejhaem, 2024
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome.
Agustsson VI et al.
Genetics in Medicine Open, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.
Shen R et al.
Signal Transduction and Targeted Therapy, 2023
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S et al.
American Journal of Human Genetics, 2022
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
Usluer E et al.
American Journal of Medical Genetics. Part A, 2022
Clinical reliability of genomic data obtained from spinal metastatic tumor samples.
Barzilai O et al.
Neuro-oncology, 2022
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Tsui DWY et al.
Genome Medicine, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H et al.
American Journal of Medical Genetics. Part A, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma.
Zheng H et al.
Frontiers in Medicine, 2020
Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.
Carosso GA et al.
Jci Insight, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N et al.
Human Mutation, 2016
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L et al.
Human Mutation, 2014
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L et al.
Orphanet Journal of Rare Diseases, 2011