Associated Papers
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Transcriptional landscape of pleural mesothelioma patients in relation to NF2 gene mutational status.
Orozco-Castaño C et al.
Journal of the Egyptian National Cancer Institute, 2025
Novel germline and somatic variants in familial and sporadic meningioma genes.
Bencheikh BOA et al.
Npj Genomic Medicine, 2025
High de novo mutation rate in Iranian NF2-related schwannomatosis patients with a report of a novel NF2 mutation.
Ghalavand MA et al.
Molecular Biology Reports, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 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
Opportunities for Improving Detection of Cancer Predisposition Syndromes in Pediatric Solid Tumor Patients.
Hu B et al.
Journal of Pediatric Hematology/oncology, 2024
A Cohort Study of CNS Tumors in Multiple Endocrine Neoplasia Type 1.
Graillon T et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Srivastava P et al.
Heliyon, 2024
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.
Youngblood MW et al.
Nature Communications, 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
Somatic mutation landscape in a cohort of meningiomas that have undergone grade progression.
Cain SA et al.
Bmc Cancer, 2023
Impact of a cell cycle and an extracellular matrix remodeling transcriptional signature on tumor progression and correlation with EZH2 expression in meningioma.
Pereira BJA et al.
Journal of Neurosurgery, 2023
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
Screening of potential novel candidate genes in schwannomatosis patients.
Perez-Becerril C et al.
Human Mutation, 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
Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
Blombery P et al.
British Journal of Haematology, 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
Prognostic impact of genetic alterations and methylation classes in meningioma.
Berghoff AS et al.
Brain Pathology (zurich, Switzerland), 2022
Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2.
Wang VY et al.
Acta Oto-laryngologica, 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
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants.
Hallermayr A et al.
Frontiers in Oncology, 2022
Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.
Jia B et al.
Frontiers in Oncology, 2022
Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV et al.
Journal of Medical Genetics, 2021
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Mansouri S et al.
Acta Neuropathologica, 2021
Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.
Hilke FJ et al.
Cancers, 2020
Brainstem ischemic syndrome in juvenile NF2.
Henson JW et al.
Neurology. Genetics, 2020
Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.
Quetel L et al.
Molecular Oncology, 2020
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
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Evans DG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
Evans DG et al.
The Laryngoscope, 2019
Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
Pasmant E et al.
Neuro-chirurgie, 2018
Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants.
Carlson ML et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2018