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
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
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
Characterizing neurofibromin 1-altered breast cancer through genomic, functional, and clinical analyses.
Mao X et al.
Virchows Archiv : an International Journal of Pathology, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Glioma genetic profiles associated with electrophysiologic hyperexcitability.
Tobochnik S et al.
Neuro-oncology, 2024
Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy Samples.
Harter J et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Primary thyroid rhabdomyosarcoma in an adult: A challenging case with histomolecular diagnosis and literature review.
Alsugair Z et al.
International Journal of Surgery Case Reports, 2023
CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.
Pita JM et al.
Frontiers in Endocrinology, 2023
9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
Jensen MR et al.
Cold Spring Harbor Molecular Case Studies, 2022
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N et al.
Nature Communications, 2022
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M et al.
Genes, Chromosomes & Cancer, 2022
Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.
Tak E et al.
Oncology Reports, 2022
Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.
Zaki MM et al.
Scientific Reports, 2021
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
Modeling Clinical Responses to Targeted Therapies by Patient-Derived Organoids of Advanced Lung Adenocarcinoma.
Kim SY et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Follicular Thyroid Neoplasms: Comparison of Clinicopathologic and Molecular Features of Atypical Adenomas and Follicular Thyroid Carcinomas.
Cracolici V et al.
The American Journal of Surgical Pathology, 2020
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.
Saadeh FS et al.
Plos One, 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
Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.
Wang W et al.
Molecular Biology Reports, 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
Clinicopathologic and Molecular Features of Metastatic Follicular Thyroid Carcinoma in Patients Presenting With a Thyroid Nodule Versus a Distant Metastasis.
Cracolici V et al.
The American Journal of Surgical Pathology, 2019
NF1 deficiency correlates with estrogen receptor signaling and diminished survival in breast cancer.
Dischinger PS et al.
Npj Breast Cancer, 2018
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Maruoka R et al.
Genetic Testing and Molecular Biomarkers, 2014
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S et al.
American Journal of Medical Genetics. Part A, 2014