Associated Papers
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.
Bowen AB et al.
Jimd Reports, 2026
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
To screen or not to screen: complexity of SDHA mutation management.
Mohamed E et al.
Endocrine Oncology (bristol, England), 2026
Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.
Parra A et al.
Cancers, 2025
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.
Ambulkar KS et al.
Endocrine Connections, 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
Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients.
Pócza T et al.
International Journal of Molecular Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
Germline genetic mutations in a multi-center cohort of 248 phyllodes tumors.
Rosenberger LH et al.
Breast Cancer Research and Treatment, 2025
A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.
Kent JD et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
Kaplan AI et al.
Endocrine-related Cancer, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Neuroblastoma Predisposition and Surveillance-An Update from the 2023 AACR Childhood Cancer Predisposition Workshop.
Kamihara J et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report.
Dai Z et al.
Oncology Letters, 2024
Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
Culliford R et al.
Nature Communications, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T et al.
Journal of Neurology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
Hereditary Renal Cancer Syndromes.
Yanus GA et al.
Medical Sciences (basel, Switzerland), 2024
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Giger OT et al.
Journal of Clinical Pathology, 2023
Longitudinal Natural History Study of Children and Adults with Rare Solid Tumors: Initial Results for First 200 Participants.
Ahmed S et al.
Cancer Research Communications, 2023
Assembly of mitochondrial succinate dehydrogenase in human health and disease.
Cao K et al.
Free Radical Biology & Medicine, 2023
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A et al.
Genes, 2023
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Nair NU et al.
Cell Reports. Medicine, 2023
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Branzoli F et al.
Endocrine-related Cancer, 2023
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Hanson H et al.
Journal of Medical Genetics, 2023
Identification of individuals at high-risk for pancreatic cancer using a digital patient-input tool combining family cancer history screening and new-onset diabetes.
Klatte DCF et al.
Preventive Medicine Reports, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Bladder Paraganglioma Associated With Succinate Dehydrogenase A Mutation Presenting as Pelvic Pain.
Hehar G et al.
Jcem Case Reports, 2023
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Zethoven M et al.
Nature Communications, 2022
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Loughrey PB et al.
Endocrine-related Cancer, 2022
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B et al.
Human Molecular Genetics, 2022
Performances of Functional and Anatomic Imaging Modalities in Succinate Dehydrogenase A-Related Metastatic Pheochromocytoma and Paraganglioma.
Patel M et al.
Cancers, 2022
An exploration in pitfalls in interpreting SDHB immunohistochemistry.
Ding CC et al.
Histopathology, 2022