Associated Papers
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Vernimmen V et al.
Human Reproduction (oxford, England), 2026
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.
Tao K et al.
Cancer Science, 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
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 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 genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Multi-omics and pharmacological characterization of patient-derived glioma cell lines.
Wu M et al.
Nature Communications, 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
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
Mutational profiling of Chinese patients with thyroid cancer.
Du Y et al.
Frontiers in Endocrinology, 2023
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K et al.
Plos One, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra R et al.
Cancers, 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
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M et al.
Genes, Chromosomes & Cancer, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.
Li H et al.
Frontiers in Oncology, 2020
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A et al.
Orphanet Journal of Rare Diseases, 2019
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.
Brekelmans C et al.
Human Mutation, 2019
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
Zhu G et al.
Orphanet Journal of Rare Diseases, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
Frayling IM et al.
Journal of Medical Genetics, 2019
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Gruber A et al.
Clinical Chemistry and Laboratory Medicine, 2018
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Hutter S et al.
Human Genetics, 2016
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014