Associated Papers
Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.
Wang L et al.
Annals of Medicine, 2026
Clinical and Genetic Landscape of Glioblastoma, IDH-Wildtype With FGFR Gene Family Alterations.
Kegoya Y et al.
Cancer Science, 2026
FGFR Testing in Metastatic Urothelial Carcinoma-Who, When, and How to Test.
Mansinho A et al.
Cancers, 2026
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 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
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.
Nan H et al.
Clinical Case Reports, 2026
C-terminal Truncation and Fusion Partner Determine Oncogenicity of FGFR3.
Yemelyanenko J et al.
Cancer Research, 2025
Concurrence of FGFR1 mutations modulates oncogenesis in glioneuronal tumors.
Boni J et al.
The Embo Journal, 2025
Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.
Smolenschi C et al.
Npj Precision Oncology, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.
Xiang L et al.
Journal of Human Genetics, 2025
A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas.
Apfelbaum AA et al.
Nature Communications, 2025
Rational Design and Identification of ISM7594 as a Tissue-Agnostic FGFR2/3 Inhibitor.
Wang Y et al.
Journal of Medicinal Chemistry, 2025
Discovery of Potent FGFR2/3 Inhibitors to Overcome Mutation Resistance and Treat Achondroplasia.
Fu D et al.
Acs Medicinal Chemistry Letters, 2025
Dr. Kinase: predicting the drug-resistance hotspots of protein kinases.
Lin S et al.
Nucleic Acids Research, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Editorial on Genomic Mosaicism in Human Development and Diseases.
Xi X et al.
Genes, 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
Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.
Zhou H et al.
Prenatal Diagnosis, 2025
Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.
Jiang M et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2025
Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.
Peng Y et al.
Molecular Medicine (cambridge, Mass.), 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Warburg-Cinotti disease variant p.Tyr740Cys enhances catalytic activity of DDR2 kinase.
Hao Z et al.
Plos One, 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
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.
Noeraparast M et al.
Cancer Communications (london, England), 2024
Discovery of TYRA-300: First Oral Selective FGFR3 Inhibitor for the Treatment of Urothelial Cancers and Achondroplasia.
Hudkins RL et al.
Journal of Medicinal Chemistry, 2024
Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.
Zheng Q et al.
Nature Chemical Biology, 2024
Computational biophysical characterization of the effect of gatekeeper mutations on the binding of ponatinib to the FGFR kinase.
Mahapatra S et al.
Archives of Biochemistry and Biophysics, 2024
Building on the clinical applicability of ctDNA analysis in non-metastatic pancreatic ductal adenocarcinoma.
Labiano I 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
N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
Hashimoto U et al.
Biochimica Et Biophysica Acta. General Subjects, 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
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
Zhang J et al.
Nature Medicine, 2024
Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation.
Striedner Y et al.
Genes, 2024
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Dominant negative variants and cotranslational assembly of macromolecular complexes.
Veitia RA
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023
Transcriptomic Profiling of Upper Tract Urothelial Carcinoma: Bladder Cancer Consensus Classification Relevance, Molecular Heterogeneity, and Differential Immune Signatures.
Fontugne J et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.
Liu W et al.
Orphanet Journal of Rare Diseases, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023