Associated Papers
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.
Hidalgo-Gómez G et al.
Annals of Hematology, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Chromothripsis-Mediated Small Cell Lung Carcinoma.
Rekhtman N et al.
Cancer Discovery, 2025
SMARCA4-deficient central nervous system metastases: A case series and systematic review.
Morris M et al.
Journal of Neuropathology and Experimental Neurology, 2024
Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.
Lechner A et al.
Frontiers in Oncology, 2024
Esophageal carcinoma with SMARCA4 mutation: a narrative review for this rare entity.
Xu J et al.
Translational Gastroenterology and Hepatology, 2024
Esophageal carcinoma with SMARCA4 mutation: Unique diagnostic challenges.
Cui M et al.
Pathology, Research and Practice, 2023
The role of chromatin remodeler SMARCA4/BRG1 in brain cancers: a potential therapeutic target.
Navickas SM et al.
Oncogene, 2023
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
Mutational landscape of normal epithelial cells in Lynch Syndrome patients.
Lee BCH et al.
Nature Communications, 2022
Afatinib for the Treatment of Non-Small Cell Lung Cancer Harboring Uncommon EGFR Mutations: An Updated Database of 1023 Cases Brief Report.
Yang JC et al.
Frontiers in Oncology, 2022
Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.
Jia B et al.
Frontiers in Oncology, 2022
Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.
Rodrigues JM et al.
Leukemia & Lymphoma, 2021
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
Holdhof D et al.
Acta Neuropathologica, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
A Pan-Cancer Analysis of SMARCA4 Alterations in Human Cancers.
Peng L et al.
Frontiers in Immunology, 2021
Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.
Fernando TM et al.
Nature Communications, 2020
Multiregional sequence revealed SMARCA4 R1192C mutant clones acquired EGFR C797S mutation in the metastatic site of an EGFR-mutated NSCLC patient.
Kunimasa K et al.
Lung Cancer (amsterdam, Netherlands), 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
Hänninen UA et al.
Plos Genetics, 2018
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 2017
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Oberg JA et al.
Genome Medicine, 2016
Genomic portfolio of Merkel cell carcinoma as determined by comprehensive genomic profiling: implications for targeted therapeutics.
Cohen PR et al.
Oncotarget, 2016