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
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.
Jinga DC et al.
International Journal of Molecular Sciences, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations.
Kim S et al.
Medcomm, 2025
Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.
Domenico D et al.
Nature Communications, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Histopathologic Features and Molecular Markers of Encephalocraniocutaneous Lipomatosis (ECCL).
Venigalla S et al.
Dermatopathology (basel, Switzerland), 2025
Resolving intra-tumor heterogeneity and clonal evolution of core-binding factor acute myeloid leukemia patients with single-cell resolution.
Hablesreiter R et al.
Experimental Hematology & Oncology, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
Rare variants modulating phenotype in NF1 carriers.
Pasquinelli E 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
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
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Genetic characterization of pediatric B-cell acute lymphoblastic leukemia in Argentina uncovers molecular heterogeneity and novel variants.
Sol Ruiz M et al.
Frontiers in Pharmacology, 2025
Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.
Futagawa M et al.
Human Genome Variation, 2024
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.
Basyuni S et al.
Nature Communications, 2024
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene.
Smeijers S et al.
Journal of Medical Genetics, 2024
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.
Wintering A et al.
Haematologica, 2024
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Savad S et al.
Neuromolecular Medicine, 2024
Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.
Lechner A et al.
Frontiers in Oncology, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants
Gjorgjievska M et al.
Balkan Medical Journal, 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
An institutional review of genomic sequencing in pediatric solid tumors.
Turco GM et al.
Pediatric Blood & Cancer, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 2022
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW et al.
Human Mutation, 2022
Vertebral arteriovenous fistulae (AVF) and vertebral artery aneurysms in neurofibromatosis type 1: A case report and a systematic review.
Zhao J et al.
Medicine, 2022
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
Lucas CG et al.
Acta Neuropathologica, 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
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F et al.
Genes, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic >KRAS Variation.
Demir S et al.
Molecular Syndromology, 2022
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.
Long A et al.
Human Mutation, 2022