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
Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues.
Sánchez-Guixé M et al.
Cancer Discovery, 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
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
Demidova EV et al.
Bmc Genomics, 2023
Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
Demidova EV et al.
Bmc Genomics, 2023
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
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
Cox DM et al.
Molecular Genetics & Genomic Medicine, 2018
Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.
Rozenblum E et al.
Plos One, 2017
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E et al.
Journal of Translational Medicine, 2016
Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.
Ni Y et al.
Endocrine-related Cancer, 2015
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Jafri M et al.
Clinical Endocrinology, 2013
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.
Ni Y et al.
Human Molecular Genetics, 2012
A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.
Burnichon N et al.
European Journal of Endocrinology, 2011
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ et al.
Human Mutation, 2010
A sporadic case of paraganglioma undetected by urine metabolite screening.
Bockenhauer D et al.
Pediatric Nephrology (berlin, Germany), 2008