Associated Papers
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.
Miolo G et al.
International Journal of Molecular Sciences, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Molecular profiling of sporadic medullary thyroid carcinomas - a next-generation sequencing-based study.
Altinay S et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2025
Low-grade histiocytic sarcoma with aggressive clinical behaviour: an unusual case with novel genetic mutations identified by whole genome sequencing.
Chiu LJ et al.
Pathology, 2024
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Giant juvenile fibroadenomas with and without prominent pseudoangiomatous stromal hyperplasia (PASH)-like change: clinicopathological and molecular characteristics.
Jorns JM et al.
Histopathology, 2023
Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.
Cheng Y et al.
Molecular Medicine Reports, 2022
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
Ostrer H
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Yoshizawa T et al.
Npj Precision Oncology, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Al Shamsi A et al.
Molecular Genetics & Genomic Medicine, 2020
Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.
Zivanovic Bujak A et al.
Plos Medicine, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.
Katayama R et al.
Nature Communications, 2019
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Chamberlin A et al.
Human Molecular Genetics, 2019
Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
Nagaraja MR et al.
Systems Biology in Reproductive Medicine, 2019
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Sproll P et al.
Molecular Genetics & Genomic Medicine, 2018
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.
Yang F et al.
Oncotargets and Therapy, 2018
Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab.
Madi A et al.
Journal of Medical Genetics, 2017
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
Disciglio V et al.
Chinese Journal of Cancer, 2016
Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.
Deschamps M et al.
American Journal of Human Genetics, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development.
Das DK et al.
Indian Journal of Human Genetics, 2013