Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.
Douwes JPJ et al.
Cancers, 2025
Functional annotation of the Hippo pathway somatic mutations in human cancers.
Han H et al.
Nature Communications, 2024
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
Evans DG et al.
Journal of Medical Genetics, 2023
Cytogenetic and Molecular Characterization of IDH-Wildtype Glioblastomas and Grade 4 IDH-Mutant Astrocytomas with Unusual Histology.
Ahrendsen JT et al.
Journal of Neuropathology and Experimental Neurology, 2022
Adult Granulosa Cell Tumor With Sarcomatous Transformation: A Case Study With Emphasis on Molecular Alterations.
Dahoud W et al.
International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 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
Novel patient-derived xenograft and cell line models for therapeutic screening in NF2-associated schwannoma.
Zhao F et al.
The Journal of Pathology, 2022
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.
Teranishi Y et al.
Scientific Reports, 2022
Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.
Kim J et al.
Frontiers in Oncology, 2022
Identification of Molecular Alterations Challenging Initial Pathologic Classification in Cases of Clinician-Initiated Next-Generation Sequencing Testing.
Cho JH et al.
American Journal of Clinical Pathology, 2021
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Teranishi Y et al.
Journal of Medical Genetics, 2021
Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.
Mortazavipour MM et al.
Hemoglobin, 2020
Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.
Hamid AB et al.
Cancers, 2020
CPI-17 Overexpression and Its Correlation With the NF2 Mutation Spectrum in Sporadic Vestibular Schwannomas.
Xu J et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C et al.
Neuro-oncology, 2018
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.
Chen H et al.
Scientific Reports, 2017
TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.
Gray PN et al.
Oncotarget, 2016
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Contini E et al.
Plos One, 2015
Application of COLD-PCR for improved detection of NF2 mosaic mutations.
Paganini I et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2.
Tanaka K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.
Sestini R et al.
Genetic Testing, 2008
Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2.
Łaniewski-Wołłk M et al.
Journal of Applied Genetics, 2008
[Variability in clinical expression of Noonan syndrome--the report of two familial cases].
Klapecki J et al.
Wiadomosci Lekarskie (warsaw, Poland : 1960), 2008
[Phenotype-genotype study in 154 French NF2 mutation carriers].
Demange L et al.
Revue Neurologique, 2007
Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.
Wallace AJ et al.
Genetic Testing, 2004
Familial schwannomatosis: exclusion of the NF2 locus as the germline event.
MacCollin M et al.
Neurology, 2003
Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens.
Hagel C et al.
Acta Neuropathologica, 2002
Molecular genetic alterations on chromosomes 11 and 22 in ependymomas.
Lamszus K et al.
International Journal of Cancer, 2001
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans DG et al.
Journal of Medical Genetics, 1998