Associated Papers
Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.
Zhang T et al.
Biorxiv : the Preprint Server for Biology, 2025
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
Identification of genetic subtypes in follicular lymphoma.
Shelton V et al.
Blood Cancer Journal, 2024
Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes.
Noerenberg D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Design and Validation of a Custom Next-Generation Sequencing Panel in Pediatric Acute Lymphoblastic Leukemia.
Gil JV et al.
International Journal of Molecular Sciences, 2023
Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.
Crouch S et al.
Blood Advances, 2022
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.
Villafranca-Magdalena B et al.
International Journal of Molecular Sciences, 2022
Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.
Liao C et al.
The International Journal of Biological Markers, 2022
Molecular Profile of Advanced Cutaneous Squamous Cell Carcinoma.
Jones J et al.
The Journal of Clinical and Aesthetic Dermatology, 2021
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H et al.
Orphanet Journal of Rare Diseases, 2019
Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.
González-Rincón J et al.
Plos One, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J et al.
European Journal of Medical Genetics, 2018
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.
Bouska A et al.
Leukemia, 2017
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J et al.
Clinical Genetics, 2016
Epigenetic control of the immune system: a lesson from Kabuki syndrome.
Stagi S et al.
Immunologic Research, 2016
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
Lin JL et al.
Clinical Genetics, 2015
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Van Laarhoven PM et al.
Human Molecular Genetics, 2015
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
A mutation screen in patients with Kabuki syndrome.
Li Y et al.
Human Genetics, 2011