Associated Papers
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.
Ek M et al.
Genome Medicine, 2026
Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant.
Moreno DA et al.
Animal Models and Experimental Medicine, 2025
DDX3X mutation and Epstein-Barr virus cooperate to induce R-loop-dependent oncogenesis.
Cai HM et al.
Cell Reports, 2025
Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.
Arun AS et al.
The Pharmacogenomics Journal, 2025
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
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ et al.
Nature Communications, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P et al.
Neuron, 2023
Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.
Guan T et al.
Frontiers in Oncology, 2022
Genetic analysis of neurodevelopmental disorders in children.
Wu D et al.
Frontiers in Child and Adolescent Psychiatry, 2022
easyCLIP analysis of RNA-protein interactions incorporating absolute quantification.
Porter DF et al.
Nature Communications, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Kang T et al.
Breast Cancer Research : Bcr, 2020
Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.
Shi Y et al.
Ebiomedicine, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
The X-Linked DDX3X RNA Helicase Dictates Translation Reprogramming and Metastasis in Melanoma.
Phung B et al.
Cell Reports, 2019
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 2018