Associated Papers
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 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
Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel.
Patócs A et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 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
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Giger OT et al.
Journal of Clinical Pathology, 2023
Three Cases of Carney-Stratakis Syndrome: A Genetically Heterogeneous Disease.
Lobato EC et al.
Jcem Case Reports, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST et al.
Clinical Endocrinology, 2022
The GIST of Advances in Treatment of Advanced Gastrointestinal Stromal Tumor.
Schaefer IM et al.
American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting, 2022
Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review.
Shi Y et al.
Frontiers in Oncology, 2022
Model systems in SDHx-related pheochromocytoma/paraganglioma.
Takács-Vellai K et al.
Cancer Metastasis Reviews, 2021
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Greenberg SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs.
Flavahan WA et al.
Nature, 2019
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Gieldon L et al.
Cancers, 2019
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.
Ong RKS et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA et al.
Journal of Medical Genetics, 2018
Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.
Verginelli F et al.
Acta Neuropathologica, 2018
Polymyalgia rheumatica and vagal paraganglioma.
L'Huillier V et al.
European Annals of Otorhinolaryngology, Head and Neck Diseases, 2017
Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.
Else T et al.
European Journal of Endocrinology, 2017
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 2016
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Bennedbæk M et al.
Hereditary Cancer in Clinical Practice, 2016
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.
Renella R et al.
Familial Cancer, 2014
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
Else T et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.
Jasperson KW et al.
Familial Cancer, 2014
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Johnston JJ et al.
American Journal of Human Genetics, 2012
Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
Vandy FC et al.
Journal of Vascular Surgery, 2011
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
Pasini B et al.
European Journal of Human Genetics : Ejhg, 2008
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor With SDHC Germline Mutation and Bilateral Renal and Neck Cysts.
Stanley K et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades.
Smith JD et al.
Oto Open, 0