Associated Papers
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.
Lee S et al.
The Journal of Clinical Investigation, 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
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L et al.
Journal of Medical Genetics, 2022
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).
Ricketts CJ et al.
Plos One, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Dedifferentiation in SDH-Deficient Gastrointestinal Stromal Tumor: A Report With Histologic, Immunophenotypic, and Molecular Characterization.
Malik F et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review.
Aghamir SMK et al.
Oncotargets and Therapy, 2019
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
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Casey RT et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2017
Genetic testing in head and neck paraganglioma: who, what, and why?
Sridhara SK et al.
Journal of Neurological Surgery. Part B, Skull Base, 2013
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
Ricketts CJ et al.
The Journal of Urology, 2012
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ et al.
Human Mutation, 2010