Associated Papers
Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.
Khouja M et al.
Leukemia, 2026
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
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.
Portelinha A et al.
The Journal of Experimental Medicine, 2024
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
Yoon JH et al.
Journal of Human Genetics, 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
Identification of genetic subtypes in follicular lymphoma.
Shelton V et al.
Blood Cancer Journal, 2024
Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes.
Kim JJ et al.
Cancer Research and Treatment, 2024
Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation.
Kwak JJ et al.
Investigative Ophthalmology & Visual Science, 2023
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.
Gao F et al.
Cancer Medicine, 2023
Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.
Liu R et al.
Cancer Science, 2023
Clinicopathological characteristics, molecular landscape, and biomarker landscape for predicting the efficacy of PD-1/PD-L1 inhibitors in Chinese population with mismatch repair deficient urothelial carcinoma: a real-world study.
Ma YT et al.
Frontiers in Immunology, 2023
Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.
Rivas-Delgado A et al.
Diagnostics (basel, Switzerland), 2022
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Gao F et al.
Frontiers in Genetics, 2021
Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
Zhang W et al.
Bmc Cancer, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2017
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
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML et al.
Archives of Disease in Childhood, 2015
The genomic landscape of pediatric Ewing sarcoma.
Crompton BD et al.
Cancer Discovery, 2014
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N et al.
American Journal of Medical Genetics. Part A, 2013
Analysis of the coding genome of diffuse large B-cell lymphoma.
Pasqualucci L et al.
Nature Genetics, 2011
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
Morin RD et al.
Nature, 2011