Associated Papers
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.
Bai B et al.
Blood Cancer Journal, 2024
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 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
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
A Comprehensive Survey of Genomic Alterations in Gastric Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets.
Chen C et al.
Biomed Research International, 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
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
Bögershausen N et al.
The Journal of Clinical Investigation, 2015
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P et al.
Clinical Genetics, 2013
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC et al.
American Journal of Medical Genetics. Part A, 2011
Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.
Kessler T et al.
Neuro-oncology Advances, 0