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
Common gene mutations in 103 authenticated colorectal cancer cell lines.
Kranjec C et al.
Oncogenesis, 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
Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.
Li H et al.
Plos One, 2026
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
The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.
Kotch C et al.
Human Genetics, 2025
Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.
Soares-Ferreira B et al.
Npj Precision Oncology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Ates K et al.
Molecular Syndromology, 2025
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.
Selig M et al.
Febs Open Bio, 2025
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.
Yang B et al.
World Journal of Surgical Oncology, 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
Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.
Huang J et al.
Scientific Reports, 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
Advancing Precision Oncology: Whole-Exome Sequencing in Endometrial Cancer Liquid-Based Cytology.
Takamatsu R et al.
Archives of Pathology & Laboratory Medicine, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.
Vienne-Jumeau A et al.
Ophthalmic Genetics, 2025
Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.
Li J et al.
Discover Oncology, 2025
Integrating molecular analyses with the 2021 WHO classification of adult pilocytic astrocytomas.
Moreno-Torres B et al.
Journal of Neuropathology and Experimental Neurology, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Preclinical NCI-MPACT: prospective modeling of the mutation-based NCI-MPACT clinical trial therapeutic strategy in patient-derived xenograft models.
Evrard YA et al.
Frontiers in Oncology, 2025
The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing.
Du Y et al.
Frontiers in Neurology, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 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
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Savad S et al.
Neuromolecular Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.
Cieza Rivera AM et al.
Orphanet Journal of Rare Diseases, 2024
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S et al.
British Journal of Haematology, 2024
Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.
Sini MC et al.
Journal of Translational Medicine, 2024
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
Kocabey M et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Lack of Influence of Non-Overlapping Mutations in BRAF, NRAS, or NF1 on 12-Month Best Objective Response and Long-Term Survival after Checkpoint Inhibitor-Based Treatment for Metastatic Melanoma.
Panning A et al.
Cancers, 2023
Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.
Fitzgerald S et al.
Molecular Diagnosis & Therapy, 2023
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L et al.
Acta Dermato-venereologica, 2023
Distinct genomic features in a retrospective cohort of mucosal, acral, and vulvovaginal melanomas.
Shi K et al.
Journal of the American Academy of Dermatology, 2023
POLE exonuclease domain mutations in endometrial carcinoma: a case report.
Pasciuto MP et al.
Pathologica, 2023
Genomic and Transcriptomic Analyses of NF1-Mutant Melanoma Identify Potential Targeted Approach for Treatment.
Jour G et al.
The Journal of Investigative Dermatology, 2023
GISTs with NTRK Gene Fusions: A Clinicopathological, Immunophenotypic, and Molecular Study.
Cao Z et al.
Cancers, 2022
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.
Jahn N et al.
Leukemia, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.
Hong JH et al.
Journal of Gynecologic Oncology, 2022