Associated Papers
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
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Branzoli F et al.
Endocrine-related Cancer, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST et al.
Clinical Endocrinology, 2022
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.
Snezhkina AV et al.
International Journal of Molecular Sciences, 2020
Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.
Snezhkina AV et al.
Frontiers in Genetics, 2020
33391357 (PubMed )
Supplement: Data_Sheet_1.PDF
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J et al.
Genome Medicine, 2018
30583724 (PubMed )
Supplement: 13073_2018_607_MOESM3_ESM.xlsx › 115_variants_manually_reviewed
Exome analysis of carotid body tumor.
Snezhkina AV et al.
Bmc Medical Genomics, 2018
Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.
Marks LJ et al.
Frontiers in Pediatrics, 2017
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Oberg JA et al.
Genome Medicine, 2016
An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
Nannini M et al.
Journal of Medical Genetics, 2013
Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.
Belinsky MG et al.
Genes, Chromosomes & Cancer, 2013
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
Miettinen M et al.
The American Journal of Surgical Pathology, 2013
Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.
Belinsky MG et al.
Frontiers in Oncology, 2013
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