Associated Papers
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
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
De novo pyrimidine synthesis is a collateral metabolic vulnerability in NF2-deficient mesothelioma.
Xu D et al.
Embo Molecular Medicine, 2025
MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.
Miller AR et al.
Bmc Cancer, 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
Primary carcinosarcoma of the uterine cervix with somatic mutations of the ATM and NF2 genes: a case report.
Irie T et al.
International Cancer Conference Journal, 2025
Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.
Möhrmann L et al.
Esmo Open, 2025
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Varghese AM et al.
Nature Medicine, 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
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.
Basyuni S et al.
Nature Communications, 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
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
Vestibular dysfunction in neurofibromatosis type 2-related schwannomatosis.
Madhani AS et al.
Brain Communications, 2023
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro.
Catasús N et al.
Molecular Therapy. Nucleic Acids, 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
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
Detection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis using aneuploidy and mutation identification in plasma.
Mattox AK et al.
Elife, 2022
Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease.
Lee E et al.
Molecular Genetics & Genomic Medicine, 2022
KRAS signaling in malignant pleural mesothelioma.
Marazioti A et al.
Embo Molecular Medicine, 2022
Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.
Shen F et al.
Frontiers in Oncology, 2022
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
Genetic alteration of Chinese patients with rectal mucosal melanoma.
Li H et al.
Bmc Cancer, 2021
Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.
Pemov A et al.
Scientific Reports, 2020
Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.
Quetel L et al.
Molecular Oncology, 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
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
Evans DG et al.
The Laryngoscope, 2019
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
MacFarland SP et al.
Jco Precision Oncology, 2019
Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas.
DE Carvalho RM et al.
Anticancer Research, 2018
Genetic landscape of sporadic vestibular schwannoma.
Håvik AL et al.
Journal of Neurosurgery, 2018
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
Paganini I et al.
Journal of Neuro-oncology, 2018
Calvarial mass as a presenting feature of neurofibromatosis type 2 in a pediatric patient.
Narine KY et al.
American Journal of Medical Genetics. Part A, 2018
Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.
Chen H et al.
Scientific Reports, 2017
Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.
Dewan R et al.
Neuro-oncology, 2015
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
Temporal bone histopathology in neurofibromatosis type 2.
Nam SI et al.
The Laryngoscope, 2011
Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2.
Walter J et al.
Clinical Neurology and Neurosurgery, 2009
[Phenotype-genotype study in 154 French NF2 mutation carriers].
Demange L et al.
Revue Neurologique, 2007