Associated Papers
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.
Kim J et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Differential Preclinical Efficacy of Combined CDK4/6 and MEK Inhibition in Low-Grade Serous Ovarian Carcinoma Based on KRAS/NF1 Mutational Status.
Bittner M et al.
International Journal of Molecular Sciences, 2026
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.
Ou M et al.
Scientific Reports, 2025
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Wang K et al.
Journal of Human Genetics, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors (GISTs): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations.
Rodriquenz MG et al.
Cancer Medicine, 2025
Non-small cell lung carcinoma with co-expression of thyroid transcription factor-1 and p40: a case report and literature review.
Wei C et al.
World Journal of Surgical Oncology, 2025
High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.
Idrissova Z et al.
Genes, 2025
NF1 Mutated Gastrointestinal Stromal Tumors With Coamplification of MDM2 and MYC.
Chen X et al.
Genes, Chromosomes & Cancer, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene.
Su S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Comparative molecular analysis of primary and recurrent pleomorphic xanthoastrocytoma with BRAF mutation treated with combination therapy with dabrafenib and trametinib: a case report and literature review.
Tateoka S et al.
International Cancer Conference Journal, 2025
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 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
Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.
Wang R et al.
Orphanet Journal of Rare Diseases, 2025
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Fei H et al.
Orphanet Journal of Rare Diseases, 2025
A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.
Wang X et al.
Biorxiv : the Preprint Server for Biology, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels.
Rodari G et al.
Italian Journal of Pediatrics, 2025
Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1.
Oliver TRW et al.
Nature Genetics, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
Laryngeal neurofibroma: case report and review of the literature.
Gao Y et al.
Frontiers in Oncology, 2025
Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.
Patócs A et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.
Cai X et al.
Bmc Cancer, 2024
NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.
Chang M et al.
Acta Neuropathologica Communications, 2024
Identification of Pathogenic Missense Mutations of NF1 Using Computational Approaches.
Chen J et al.
Journal of Molecular Neuroscience : Mn, 2024
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Savad S et al.
Neuromolecular Medicine, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Germline Genetic Mutations in Adult Patients with Sarcoma: Insight into the Middle East Genetic Landscape.
Abu-Hijlih R et al.
Cancers, 2024
Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors.
Nishida T et al.
Cancer Science, 2024