Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.
Takemon Y et al.
Genome Medicine, 2024
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
Multiregion exome sequencing indicates a monoclonal origin of esophageal spindle-cell squamous cell carcinoma.
Wang Y et al.
The Journal of Pathology, 2024
[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].
Fan H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 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
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.
Shah SS et al.
American Journal of Medical Genetics. Part A, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby K et al.
American Journal of Medical Genetics. Part A, 2023
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.
Wang X et al.
Haematologica, 2022
Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.
Frauenfeld L et al.
Blood Advances, 2022
T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.
Wang J et al.
Frontiers in Immunology, 2022
Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia.
Kook HW et al.
Journal of Cancer, 2022
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.
Su D et al.
Nature Communications, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH et al.
Genome Medicine, 2017
Emerging role of mutations in epigenetic regulators including MLL2 derived from The Cancer Genome Atlas for cervical cancer.
Li X
Bmc Cancer, 2017
Growth pattern in Kabuki syndrome with a KMT2D mutation.
Schott DA et al.
American Journal of Medical Genetics. Part A, 2016
Spatial intratumoral heterogeneity and temporal clonal evolution in esophageal squamous cell carcinoma.
Hao JJ et al.
Nature Genetics, 2016
A Child with Kabuki Syndrome and Autism Spectrum Disorder.
Sertçelik M et al.
Noro Psikiyatri Arsivi, 2016
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L et al.
Human Mutation, 2014