Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G 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
Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model-Based Prediction.
Ziegler M et al.
Jco Precision Oncology, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2025
Identification of activating hotspot mutations in acrochordons through next-generation sequencing.
Jia JL et al.
Jaad International, 2025
Exploring the utility of a NGS multigene panel to predict BCG response in patients with non-muscle invasive bladder cancer.
Francesca B et al.
Oncology Research, 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
A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations.
Jama MA et al.
The Journal of Molecular Diagnostics : Jmd, 2024
The genomic and transcriptomic landscape of metastastic urothelial cancer.
Loriot Y et al.
Nature Communications, 2024
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Pemigatinib in previously treated solid tumors with activating FGFR1-FGFR3 alterations: phase 2 FIGHT-207 basket trial.
Rodón J et al.
Nature Medicine, 2024
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
Mutational landscape of head and neck cancer and cervical cancer in Chinese and Western population.
Li Q et al.
Head & Neck, 2024
Pemigatinib for metastatic or surgically unresectable urothelial carcinoma with FGF/FGFR genomic alterations: final results from FIGHT-201.
Necchi A et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2024
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and Genomic Landscape of FGFR3-Altered Urothelial Carcinoma and Treatment Outcomes with Erdafitinib: A Real-World Experience.
Guercio BJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Fibroblast growth factor receptor 3 mutation attenuates response to immune checkpoint blockade in metastatic urothelial carcinoma by driving immunosuppressive microenvironment.
Song Y et al.
Journal for Immunotherapy of Cancer, 2023
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.
Chen S et al.
Bmc Medical Genomics, 2023
Role of FGFR3 in bladder cancer: Treatment landscape and future challenges.
Ascione CM et al.
Cancer Treatment Reviews, 2023
Genomics-Driven Precision Medicine in Pediatric Solid Tumors.
Suthapot P et al.
Cancers, 2023
[Investigation of the mutational status of the FGFR3 gene in urothelial bladder carcinoma].
Oliushina EM et al.
Arkhiv Patologii, 2023
Molecular and Functional Heterogeneity of Primary Pancreatic Neuroendocrine Tumors and Metastases.
Guo Y et al.
Neuroendocrinology, 2023
Genomic heterogeneity as a barrier to precision oncology in urothelial cancer.
Clinton TN et al.
Cell Reports, 2022
Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.
Boström M et al.
Nature Communications, 2022
Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.
Serna-Blasco R et al.
Cancers, 2022
Integrated proteogenomic characterization of urothelial carcinoma of the bladder.
Xu N et al.
Journal of Hematology & Oncology, 2022
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Serial ctDNA analysis predicts clinical progression in patients with advanced urothelial carcinoma.
Shohdy KS et al.
British Journal of Cancer, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.
Nakamura IT et al.
Npj Precision Oncology, 2021
Insights of fibroblast growth factor receptor 3 aberrations in pan-cancer and their roles in potential clinical treatment.
Li J et al.
Aging, 2021
Clinicopathologic and Genomic Characterization of PD-L1 Positive Urothelial Carcinomas.
Huang RSP et al.
The Oncologist, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Targeting FGFR in non-small cell lung cancer: implications from the landscape of clinically actionable aberrations of FGFR kinases.
Zhou Z et al.
Cancer Biology & Medicine, 2021
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
Meyer AN et al.
American Journal of Medical Genetics. Part A, 2021
Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.
Zhang J et al.
Frontiers in Oncology, 2021
Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.
Shi MJ et al.
Genome Medicine, 2020
Immunogenicity and Immune Silence in Human Cancer.
Yarmarkovich M et al.
Frontiers in Immunology, 2020
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
Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3.
Jiang G et al.
Experimental and Molecular Pathology, 2019
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Genomic characterization for familial cases with urothelial carcinoma.
Shindo T et al.
International Cancer Conference Journal, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019