Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.
Vasseur D et al.
Npj Precision Oncology, 2024
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Ahn JH et al.
Parkinsonism & Related Disorders, 2023
Practical Utility of Liquid Biopsies for Evaluating Genomic Alterations in Castration-Resistant Prostate Cancer.
Jeong SH et al.
Cancers, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.
Liu ZJ et al.
Frontiers in Pediatrics, 2023
ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.
Putti S et al.
Cancers, 2021
Challenges of the current precision medicine approach for pancreatic cancer: A single institution experience between 2013 and 2017.
Ding D et al.
Cancer Letters, 2021
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.
Kim M et al.
Clinical Neurology and Neurosurgery, 2020
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Pogoda M et al.
Frontiers in Neurology, 2019
Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia.
Pauls KAM et al.
Parkinsonism & Related Disorders, 2017
Ataxia-telangiectasia: Immunodeficiency and survival.
van Os NJH et al.
Clinical Immunology (orlando, Fla.), 2017
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
Kuhm C et al.
Journal of Neurology, 2015