Associated Papers
Human-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.
Kaczmarek P et al.
Journal of Anatomy, 2026
Allosteric activation of FGFR2 kinase in endometrial cancer: insights from Gaussian accelerated molecular dynamics and the Markov state model.
Mahapatra S et al.
Physical Chemistry Chemical Physics : Pccp, 2026
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
Karaman V et al.
Prenatal Diagnosis, 2026
Genetic Syndromes Associated With Congenital Upper Limb Differences.
Elsherbini A et al.
The Journal of Hand Surgery, 2026
FGFR Testing in Metastatic Urothelial Carcinoma-Who, When, and How to Test.
Mansinho A et al.
Cancers, 2026
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.
Saad R et al.
American Journal of Medical Genetics. Part A, 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
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.
Tackie E et al.
Research Square, 2025
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
Leveraging oncology clinical case report data through the Cancer Knowledgebase (CKB).
Gokhale RH et al.
Personalized Medicine, 2025
RAD51B-EZH2 axis as a potential therapeutic target for TNBC through cell fate conversion.
Lin S et al.
Cell Death & Disease, 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
Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.
Da Cruz Paula A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
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
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.
Özer L et al.
Bmc Pregnancy and Childbirth, 2025
Molecular Mechanisms and Clinical Implications of Fibroblast Growth Factor Receptor 2 Signaling in Gastrointestinal Stromal Tumors.
Hong Y et al.
Current Issues in Molecular Biology, 2025
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.
Spedicati B et al.
Genes, 2025
Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis.
Gijsbertsen M et al.
Disease Models & Mechanisms, 2025
Nf2/FGFR1/AKT axis directs cranial neural crest-derived skull morphogenesis via collagen synthesis and trafficking.
Huang Y et al.
Jci Insight, 2025
A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.
Xiong D et al.
Nature Biotechnology, 2025
Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.
El-Bassyouni HT et al.
Molecular Neurobiology, 2025
Gene actionability according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) in No Specific Molecular Profile (NSMP) endometrial cancer.
Mastrantoni L et al.
Esmo Open, 2025
MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.
Miller AR et al.
Bmc Cancer, 2025
MutationAssessor in cBioPortal.
Su Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Mutation profile and chromosomal abnormality in adenomyosis.
Suda K et al.
Reproduction (cambridge, England), 2025
Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.
Saponaro G et al.
Dermatopathology (basel, Switzerland), 2025
Prenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases.
Vida MVG et al.
Translational Pediatrics, 2025
Rational Design and Identification of ISM7594 as a Tissue-Agnostic FGFR2/3 Inhibitor.
Wang Y et al.
Journal of Medicinal Chemistry, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Dosage-dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses.
Richbourg HA et al.
Anatomical Record (hoboken, N.j. : 2007), 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 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
Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors.
Chan HT et al.
Clinical Chemistry, 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
Efficacy of 2 different fibroblast growth factor receptor-inhibitors in a patient with extrahepatic cholangiocarcinoma harboring an FGFR2 mutation: a case report.
Galli-Vareia I et al.
The Oncologist, 2025
Genetic predictors of unexpected recurrence in low-risk endometrial cancer: A comprehensive genomic analysis reveals FGFR2 as a risk factor and a rare fatal POLE-mutated recurrence.
Mettälä T et al.
Gynecologic Oncology, 2025
Endometrial carcinomas with ambiguous histology often harbor TP53 mutations.
Davidson B et al.
Virchows Archiv : an International Journal of Pathology, 2025
Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome.
Tiberio F et al.
Molecular Therapy. Nucleic Acids, 2025
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
FGFR2 directs inhibition of WNT signaling to regulate anterior fontanelle closure during skull development.
Bobzin L et al.
Development (cambridge, England), 2025
Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.
Huang J 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