Associated Papers
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Jenni R et al.
Journal of Translational Medicine, 2026
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
Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.
Eberhard A et al.
Iscience, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.
Vasseur D et al.
Npj Precision Oncology, 2024
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.
Bang S et al.
Cancers, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Andrikopoulou A et al.
Frontiers in Oncology, 2022
Molecular epidemiology of hereditary ataxia in Finland.
Lipponen J et al.
Bmc Neurology, 2021
Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib.
Fujii Y et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2021
Genetic alteration of Chinese patients with rectal mucosal melanoma.
Li H et al.
Bmc Cancer, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Genomic Landscape in Neoplasm-Like Stroma Reveals Distinct Prognostic Subtypes of Pancreatic Ductal Adenocarcinoma.
Jiang J et al.
Frontiers in Oncology, 2021
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).
Asadollahi R et al.
Molecular Genetics & Genomic Medicine, 2020
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Ataxia telangiectasia: more variation at clinical and cellular levels.
Taylor AM et al.
Clinical Genetics, 2015
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
Byrd PJ et al.
British Journal of Cancer, 2012
ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
Skowronska A et al.
Haematologica, 2012
Discovering moderate-risk breast cancer susceptibility genes.
Hollestelle A et al.
Current Opinion in Genetics & Development, 2010