Associated Papers
Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.
de la Calle Arregui C et al.
Biorxiv : the Preprint Server for Biology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
A Subset of Serous Tubal Intraepithelial Carcinoma (STIC)-Like Lesions and Concurrent High-Grade Endometrial Carcinoma Are Genomically Related Entities.
da Silva EM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2.
Gupta S et al.
American Journal of Ophthalmology Case Reports, 2025
Novel germline and somatic variants in familial and sporadic meningioma genes.
Bencheikh BOA et al.
Npj Genomic Medicine, 2025
Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.
Wang A et al.
Bmc Pediatrics, 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
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 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
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 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
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Oishi N et al.
Scientific Reports, 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
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
Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.
Hong JH et al.
Journal of Gynecologic Oncology, 2022
Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas.
El Zein S et al.
Genes, Chromosomes & Cancer, 2022
KRAS signaling in malignant pleural mesothelioma.
Marazioti A et al.
Embo Molecular Medicine, 2022
KMT2C mutation is a diagnostic molecular marker for primary thyroid osteosarcoma: A case report and literature review.
Wang X et al.
Frontiers in Medicine, 2022
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M et al.
Frontiers in Genetics, 2022
A renal cell carcinoma tumorgraft platform to advance precision medicine.
Elias R et al.
Cell Reports, 2021
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 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
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Mansouri S et al.
Acta Neuropathologica, 2021
Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.
Yang Z et al.
Nature Communications, 2020
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
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George SL et al.
European Journal of Cancer (oxford, England : 1990), 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
New insights into the genomic landscape of meningiomas identified FGFR3 in a subset of patients with favorable prognoses.
AlSahlawi A et al.
Oncotarget, 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 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma.
Supartoto A et al.
International Journal of Ophthalmology, 2019
Deregulation of the Hippo Pathway Promotes Tumor Cell Proliferation Through YAP Activity in Human Sporadic Vestibular Schwannoma.
Zhao F et al.
World Neurosurgery, 2018
Copy number signatures and mutational processes in ovarian carcinoma.
Macintyre G et al.
Nature Genetics, 2018
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C et al.
Neuro-oncology, 2018