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
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
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N et al.
Breast (edinburgh, Scotland), 2025
High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.
Idrissova Z et al.
Genes, 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
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
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.
Rekha A et al.
Neurology India, 2024
Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Hida T et al.
Cancer Medicine, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors.
Jelinek T et al.
Leukemia, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B et al.
The Lancet Regional Health. Europe, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature.
Gao M et al.
Frontiers in Neurology, 2022
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants.
Kluwe L et al.
American Journal of Medical Genetics. Part A, 2021
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E et al.
Journal of Human Genetics, 2020
The genetic landscape of ganglioglioma.
Pekmezci M et al.
Acta Neuropathologica Communications, 2018
Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Rosset C et al.
Expert Review of Molecular Diagnostics, 2018
Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report.
Ponti G et al.
Oncology Letters, 2016
NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.
Ponti G et al.
Anticancer Research, 2014