Associated Papers
Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome-A case report.
Yagi T et al.
Journal of Diabetes Investigation, 2026
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
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome.
Sakar K et al.
Jcem Case Reports, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.
Rosenberger LH et al.
Breast Cancer Research and Treatment, 2025
A Rare Presentation of Five Primary Cancers in a Patient With Werner Syndrome: A Case Report and Literature Review.
Yadav R et al.
Cureus, 2025
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.
Manirakiza AV et al.
Npj Genomic Medicine, 2024
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN.
Druta JP et al.
Acta Medica Lituanic, 2024
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Clinical and genetic characteristics in pancreatic cancer from Chinese patients revealed by whole exome sequencing.
He Y et al.
Frontiers in Oncology, 2023
Optical coherence tomography findings in three patients with Werner syndrome.
Nagai T et al.
Bmc Ophthalmology, 2022
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Miller DE et al.
Journal of Medical Genetics, 2022
Werner syndrome presenting as early-onset diabetes: A case report.
Wang X et al.
Journal of Diabetes Investigation, 2022
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Severe metabolic disorders coexisting with Werner syndrome: a case report.
Li H et al.
Endocrine Journal, 2021
WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family.
Norouzi M et al.
Frontiers in Oncology, 2021
Evaluation of glucose tolerance and effect of dietary management on increased visceral fat in a patient with Werner syndrome.
Yamamoto R et al.
Endocrine Journal, 2020
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Aoude LG et al.
Scientific Reports, 2020
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
WRN-Mutated Colorectal Cancer Is Characterized by a Distinct Genetic Phenotype.
Zimmer K et al.
Cancers, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Genetic correction of Werner syndrome gene reveals impaired pro-angiogenic function and HGF insufficiency in mesenchymal stem cells.
Tu J et al.
Aging Cell, 2020
Prevalence of clinically actionable disease variants in exceptionally long-lived families.
Carlson P et al.
Bmc Medical Genomics, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.
Nassar AH et al.
British Journal of Cancer, 2020
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E et al.
Scientific Reports, 2019
NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome.
Fang EF et al.
Nature Communications, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019