Associated Papers
Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.
González-Gil C et al.
Hemasphere, 2025
Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.
Bai B et al.
Blood Cancer Journal, 2024
EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.
Romero P et al.
Nature Communications, 2024
Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.
Boniel S et al.
Frontiers in Genetics, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Fetal Phenotype and Prenatal Diagnosis of Kabuki Syndrome.
Pan Y et al.
Maternal-fetal Medicine (wolters Kluwer Health, Inc.), 2023
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Jung YL et al.
Human Molecular Genetics, 2023
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K et al.
Cancers, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.
Zhang Y et al.
Scientific Reports, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 2021
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Bilateral Congenital Corneal Opacities as an Early-Onset Ocular Feature of Kabuki Syndrome.
Lin PA et al.
Cornea, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
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
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC et al.
American Journal of Medical Genetics. Part A, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen AD et al.
Human Mutation, 2011
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB et al.
Nature Genetics, 2010