Associated Papers
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
Karaman V et al.
Prenatal Diagnosis, 2026
Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.
Palollathil A et al.
Proteomes, 2026
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.
Ma M et al.
Bmc Medical Genomics, 2026
Novel variant in FGFR2 in a family with anterior segment anomalies.
Chattannavar G et al.
Ophthalmic Genetics, 2026
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.
Jiang Y et al.
Prenatal Diagnosis, 2026
Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.
Pan D et al.
American Journal of Medical Genetics. Part A, 2025
Distinct phenotypic consequences of cholangiocarcinoma-associated FGFR2 alterations depend on biliary epithelial cell state.
Chiasson-MacKenzie C et al.
Biorxiv : the Preprint Server for Biology, 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
An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.
Tie HX et al.
Quantitative Imaging in Medicine and Surgery, 2024
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 2024
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
FGFR Alterations in Thyroid Carcinoma: A Novel Class of Primary Drivers with Significant Therapeutic Implications and Secondary Molecular Events Potentially Mediating Resistance in Thyroid Malignancy.
Sabbagh MF et al.
Thyroid : Official Journal of the American Thyroid Association, 2024
Therapeutic advances of targeting receptor tyrosine kinases in cancer.
Tomuleasa C et al.
Signal Transduction and Targeted Therapy, 2024
Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants.
Chen S et al.
Cancer Biology & Medicine, 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
Novel therapeutic strategies for rare mutations in non-small cell lung cancer.
Gou Q et al.
Scientific Reports, 2024
Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2024
Evaluation of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA) Samples from Advanced Non-Small Cell Lung Cancer for Whole Genome, Whole Exome and Comprehensive Panel Sequencing.
Fielding D et al.
Cancers, 2024
Activated FGFR2 signalling as a biomarker for selection of intrahepatic cholangiocarcinoma patients candidate to FGFR targeted therapies.
Brandi G et al.
Scientific Reports, 2024
Navigating uncharted territory: a case report and literature review on the remarkable response to personalized crizotinib containing combinational therapy in a pazopanib refractory patient with novel alterations.
Aydın E et al.
Therapeutic Advances in Medical Oncology, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Circulating Tumor DNA in Head and Neck Squamous Cell Carcinoma: Association with Metabolic Tumor Burden Determined with FDG-PET/CT.
Silvoniemi A et al.
Cancers, 2023
Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Timberlake AT
Plastic and Reconstructive Surgery, 2023
Landscape of Genetic Mutations in Appendiceal Cancers.
Constantin M et al.
Cancers, 2023
FGF signaling in cranial suture development and related diseases.
Zhao X et al.
Frontiers in Cell and Developmental Biology, 2023
Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report.
Manji KP et al.
Journal of Medical Case Reports, 2022
FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer.
Moes-Sosnowska J et al.
International Journal of Molecular Sciences, 2022
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report.
Jang MJ et al.
Children (basel, Switzerland), 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
Noble AR et al.
The Laryngoscope, 2022
Fibroblast Growth Factor Receptor 1-4 Genetic Aberrations as Clinically Relevant Biomarkers in Squamous Cell Lung Cancer.
Moes-Sosnowska J et al.
Frontiers in Oncology, 2022
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
Emerging genetic biomarkers in lung adenocarcinoma.
Barbar J et al.
Sage Open Medicine, 2022
Targeted genomic profiling revealed a unique clinical phenotype in intrahepatic cholangiocarcinoma with fibroblast growth factor receptor rearrangement.
Zhu Z et al.
Translational Oncology, 2021
Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.
Hu ZY et al.
Clinical Case Reports, 2021
Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
Katsuragi SY et al.
The American Journal of Case Reports, 2021
Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.
Nakamura IT et al.
Npj Precision Oncology, 2021
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.
Joshi A et al.
Oncotarget, 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
Fibroblast growth factor receptors in cancer: genetic alterations, diagnostics, therapeutic targets and mechanisms of resistance.
Krook MA et al.
British Journal of Cancer, 2021
A Pancancer Analysis of the Expression Landscape and Clinical Relevance of Fibroblast Growth Factor Receptor 2 in Human Cancers.
Li J et al.
Frontiers in Oncology, 2021
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2019