Associated Papers
Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.
Klocker EV et al.
Npj Breast Cancer, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.
Jelsig AM et al.
Journal of Medical Genetics, 2023
Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Jelsig AM et al.
Endoscopy International Open, 2022
Liquid biopsy for the detection of resistance mutations to ROS1 and RET inhibitors in non-small lung cancers: A case series study.
Seki Y et al.
Respiratory Investigation, 2022
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM et al.
American Journal of Medical Genetics. Part A, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Somatic targeted mutation profiling of colorectal cancer precursor lesions.
Dos Santos W et al.
Bmc Medical Genomics, 2022
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.
Ju Y et al.
Frontiers in Genetics, 2021
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 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
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin A et al.
Plos Medicine, 2017
Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.
Lee SH et al.
Oncotarget, 2017
JP-HHT phenotype in Danish patients with SMAD4 mutations.
Jelsig AM et al.
Clinical Genetics, 2016
[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].
Henningsen MK et al.
Ugeskrift for Laeger, 2015
National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
Tørring PM et al.
Clinical Genetics, 2014
Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.
Kessler T et al.
Neuro-oncology Advances, 0