Associated Papers
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.
Schmalz D et al.
International Journal of Molecular Sciences, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.
Wright CF et al.
Nature Genetics, 2024
Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran.
Asgarian S et al.
Scientific Reports, 2024
Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma.
Dolgalev I et al.
Nature Communications, 2023
Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.
Wu HX et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Screening for monogenic subtypes of gestational diabetes in a high prevalence island population - A whole exome sequencing study.
Pace NP et al.
Diabetes/metabolism Research and Reviews, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.
Frank MS et al.
Cancers, 2021
A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.
Sinha S et al.
Nature Communications, 2021
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.
Dron JS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 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
Single-cell analysis based dissection of clonality in myelofibrosis.
Mylonas E et al.
Nature Communications, 2020
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease.
Marjanovic I et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014