Associated Papers
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow.
Mosera M et al.
American Journal of Medical Genetics. Part A, 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
Expanding the paradigm of the recurrent mosaic SMO c.1234C>T variant: a patient with a linear blaschkoid congenital lesion with multiple basal cell carcinomas.
Tan L et al.
Clinical and Experimental Dermatology, 2025
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Zhu X et al.
Prenatal Diagnosis, 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
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.
Lindelöf H et al.
European Journal of Human Genetics : Ejhg, 2025
Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer.
Nikkola J et al.
Cell Reports, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Dabogratinib (TYRA-300), an FGFR3 isoform-selective inhibitor: preclinical and initial clinical evidence of anti-tumor activity.
Starrett JH et al.
Molecular Cancer Therapeutics, 2025
Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development.
Chen J et al.
Ultraschall in Der Medizin (stuttgart, Germany : 1980), 2025
FGFR1/3 Signaling as an Achilles' Heel of Phenotypic Diversity in Urothelial Carcinoma.
Pichler R et al.
European Urology Oncology, 2025
A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.
Weller C et al.
Science (new York, N.y.), 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
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
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
FGFR2/3 Gene Alterations and Clinical Outcomes in Advanced/Metastatic Urothelial Cancer in Japan: MONSTAR-SCREEN Database Study.
Matsubara N et al.
Cancer Science, 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
Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.
Arun AS et al.
The Pharmacogenomics Journal, 2025
Single-center analysis of a real-world cohort of patients with metastatic urothelial carcinoma evaluated by NGS: molecular landscape and efficacy of targeted therapies.
Gutiérrez Pérez C et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 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
Identification of shared neoantigens derived from frameshift mutations in the APC gene.
Zhao P et al.
Frontiers in Immunology, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in 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
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
Predictive Molecular Biomarkers of Bladder Cancer Identified by Next-Generation Sequencing-Preliminary Data.
Myszka A et al.
Journal of Clinical Medicine, 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
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors.
Xu C et al.
Global Medical Genetics, 2024
Use of 3' Rapid Amplification of cDNA Ends (3' RACE)-Based Targeted RNA Sequencing for Profiling of Druggable Genetic Alterations in Urothelial Carcinomas.
Mitiushkina NV et al.
International Journal of Molecular Sciences, 2024
FGFR Inhibitors in Urothelial Cancer: From Scientific Rationale to Clinical Development.
Kwon WA
Journal of Korean Medical Science, 2024
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
Deciphering resistance mechanisms in cancer: final report of MATCH-R study with a focus on molecular drivers and PDX development.
Vasseur D et al.
Molecular Cancer, 2024
The genomic and transcriptomic landscape of metastastic urothelial cancer.
Loriot Y et al.
Nature Communications, 2024
Phase 3 THOR Japanese subgroup analysis: erdafitinib in advanced or metastatic urothelial cancer and fibroblast growth factor receptor alterations.
Matsubara N et al.
International Journal of Clinical Oncology, 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
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024