Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
Molecular patterns and mechanisms of tumorigenesis in HPV-associated and HPV-independent sinonasal squamous cell carcinoma.
Zamuner FT et al.
Nature Communications, 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
AI allows pre-screening of FGFR3 mutational status using routine histology slides of muscle-invasive bladder cancer.
Bannier PA et al.
Nature Communications, 2024
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR et al.
Journal of Medical Genetics, 2023
Somatic mutations in facial skin from countries of contrasting skin cancer risk.
King C et al.
Nature Genetics, 2023
Significance of the FGFR3 mutation in Chinese patients with bladder cancer.
Hao L et al.
Translational Andrology and Urology, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
Wang L et al.
Medicine, 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
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
Low immunogenicity of common cancer hot spot mutations resulting in false immunogenic selection signals.
Claeys A et al.
Plos Genetics, 2021
Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.
Peng Y et al.
Frontiers in Genetics, 2021
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q et al.
Genes, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Phase II Study of AZD4547 in Patients With Tumors Harboring Aberrations in the FGFR Pathway: Results From the NCI-MATCH Trial (EAY131) Subprotocol W.
Chae YK et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma.
Sjödahl G et al.
International Journal of Cancer, 2020
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
Clinical value of genetic analysis in prenatal diagnosis of short femur.
Liu J et al.
Molecular Genetics & Genomic Medicine, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma.
Hong S et al.
Nature Communications, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Identification of potentially druggable molecular alterations in skin adnexal malignancies.
Cavalieri S et al.
The Journal of Dermatology, 2019
Structural Alterations in Human Fibroblast Growth Factor Receptors in Carcinogenesis.
Mikhaylenko DS et al.
Biochemistry. Biokhimiia, 2018
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
Cho Y et al.
Scientific Reports, 2017
A Phase II Trial of Dovitinib in BCG-Unresponsive Urothelial Carcinoma with FGFR3 Mutations or Overexpression: Hoosier Cancer Research Network Trial HCRN 12-157.
Hahn NM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Li YY et al.
Nature Communications, 2017
Analysis of papillary urothelial carcinomas of the bladder with grade heterogeneity: supportive evidence for an early role of CDKN2A deletions in the FGFR3 pathway.
Downes MR et al.
Histopathology, 2017
Genome-wide association analysis identifies genetic correlates of immune infiltrates in solid tumors.
Siemers NO et al.
Plos One, 2017
Spectrum of genomic alterations in FGFR3: current appraisal of the potential role of FGFR3 in advanced urothelial carcinoma.
Sethakorn N et al.
Bju International, 2016
Detection of multiple mutations in urinary exfoliated cells from male bladder cancer patients at diagnosis and during follow-up.
Critelli R et al.
Oncotarget, 2016
Oncogenic Activation of Fibroblast Growth Factor Receptor-3 and RAS Genes as Non-Overlapping Mutual Exclusive Events in Urinary Bladder Cancer.
Pandith AA et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2016
Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer.
Hosen I et al.
International Journal of Cancer, 2015
Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.
Gallo LH et al.
Cytokine & Growth Factor Reviews, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
TERT promoter mutations and TERT mRNA but not FGFR3 mutations are urinary biomarkers in Han Chinese patients with urothelial bladder cancer.
Wang K et al.
The Oncologist, 2015
[PENS (papular epidermal nevus with "skyline" basal cell layer)].
Pernet C et al.
Annales De Dermatologie Et De Venereologie, 2015
Increased angiogenesis and FGFR protein expression indicate a favourable prognosis in bladder cancer.
Bertz S et al.
Virchows Archiv : an International Journal of Pathology, 2014