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
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
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
Harnessing genomic profiling for improved urothelial cancer outcomes.
Yu EM et al.
Expert Review of Anticancer Therapy, 2026
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Zhu X et al.
Prenatal Diagnosis, 2025
Diagnostic and Prognostic Implications of FGFR3, TP53 Mutation and Urinary Biomarkers in Urothelial Carcinoma in Pakistani Cohort.
Asif M et al.
Journal of Clinical Medicine, 2025
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.
Li G et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.
Tandukar B et al.
Nature Communications, 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
Sperm sequencing reveals extensive positive selection in the male germline.
Neville MDC et al.
Nature, 2025
Somatic mutation and selection at population scale.
Lawson ARJ et al.
Nature, 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
Genomic profiling of urological malignancies using tissue-based next generation sequencing.
Alruwaii ZI et al.
Urologic Oncology, 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 structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.
Xiong D et al.
Nature Biotechnology, 2025
Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort.
Gupta N et al.
Prenatal Diagnosis, 2025
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 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
Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.
Nedjadi T et al.
Scientific Reports, 2025
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
Round-Robin Comparison of RET Rearrangement Detection in ctDNA: A Novel Method for Limited Clinical Samples.
Paweletz CP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Development of a Technique for Diagnosis and Screening of Superficial Bladder Cancer by Cell-Pellet DNA From Urine Sample.
Seok J et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025
Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism.
Wei S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 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
FGFR3 gene mutations screening in non-muscle invasive bladder cancer (NMIBC) in the Tunisian population.
Saidani B et al.
Molecular Biology Reports, 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
Molecular Heterogeneity and Immune Infiltration Drive Clinical Outcomes in Upper Tract Urothelial Carcinoma.
Kim K et al.
European Urology, 2025
Comprehensive genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer.
Eklund EA et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025