Associated Papers
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Richter S et al.
Endocrine-related Cancer, 2022
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Rijken JA et al.
Cancers, 2019
Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.
Rijken JA et al.
Bjs Open, 2018
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
Rijken JA et al.
Clinical Genetics, 2018
The phenotype of SDHB germline mutation carriers: a nationwide study.
Niemeijer ND et al.
European Journal of Endocrinology, 2017
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.
Klein RD et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2008
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