Associated Papers
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Giger OT et al.
Journal of Clinical Pathology, 2023
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.
Stoltze UK et al.
Journal of Medical Genetics, 2023
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST et al.
Clinical Endocrinology, 2022
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.
Main AM et al.
Endocrine Connections, 2020
Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.
Li C et al.
Melanoma Research, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Casey RT et al.
Scientific Reports, 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
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Bennedbæk M et al.
Hereditary Cancer in Clinical Practice, 2016
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
McInerney-Leo AM et al.
Clinical Endocrinology, 2014
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Rattenberry E et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
Panizza E et al.
Human Molecular Genetics, 2013