Published in Lancet Oncol on January 11, 2010
SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet (2010) 3.07
Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev (2012) 2.70
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68
Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol (2011) 2.49
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. Ann Surg Oncol (2013) 2.38
Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clin Chem (2011) 2.24
Inborn and acquired metabolic defects in cancer. J Mol Med (Berl) (2011) 2.06
Identification of a protein mediating respiratory supercomplex stability. Cell Metab (2012) 1.95
Staging and functional characterization of pheochromocytoma and paraganglioma by 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography. J Natl Cancer Inst (2012) 1.78
Succinate dehydrogenase - Assembly, regulation and role in human disease. Mitochondrion (2010) 1.56
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet (2012) 1.34
Renal cancer in von Hippel-Lindau disease and related syndromes. Nat Rev Nephrol (2013) 1.23
New roles of carboxypeptidase E in endocrine and neural function and cancer. Endocr Rev (2012) 1.23
Pheochromocytoma/Paraganglioma: Review of perioperative management of blood pressure and update on genetic mutations associated with pheochromocytoma. J Clin Hypertens (Greenwich) (2013) 1.19
TCA Cycle Defects and Cancer: When Metabolism Tunes Redox State. Int J Cell Biol (2012) 1.17
Metastatic paraganglioma. Semin Oncol (2010) 1.12
Head and neck paragangliomas: clinical and molecular genetic classification. Clinics (Sao Paulo) (2012) 1.07
Familial pediatric endocrine tumors. Oncologist (2011) 1.04
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet (2012) 1.04
Paragangliomas and paraganglioma syndromes. GMS Curr Top Otorhinolaryngol Head Neck Surg (2012) 1.03
SDH-related pheochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab (2010) 1.00
Fumarate and Succinate Regulate Expression of Hypoxia-inducible Genes via TET Enzymes. J Biol Chem (2015) 0.99
Molecular and therapeutic advances in the diagnosis and management of malignant pheochromocytomas and paragangliomas. Oncologist (2013) 0.97
Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma. Fam Cancer (2011) 0.94
Current and future anatomical and functional imaging approaches to pheochromocytoma and paraganglioma. Horm Metab Res (2012) 0.94
Age at diagnosis of pheochromocytoma differs according to catecholamine phenotype and tumor location. J Clin Endocrinol Metab (2010) 0.92
Paragangliomas/Pheochromocytomas: clinically oriented genetic testing. Int J Endocrinol (2014) 0.89
Genetic testing for pheochromocytoma. Curr Hypertens Rep (2010) 0.87
An update on the genetics of pheochromocytoma. J Hum Hypertens (2012) 0.87
10 rare tumors that warrant a genetics referral. Fam Cancer (2013) 0.84
Familial pheochromocytomas and paragangliomas. Mol Cell Endocrinol (2013) 0.83
Rethinking pheochromocytomas and paragangliomas from a genomic perspective. Oncogene (2015) 0.83
Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC). Neurogenetics (2011) 0.83
18F-FDG PET/CT as a predictor of hereditary head and neck paragangliomas. Eur J Clin Invest (2014) 0.82
Impaired mitochondrial metabolism and mammary carcinogenesis. J Mammary Gland Biol Neoplasia (2012) 0.82
Translational research in endocrine surgery. Surg Oncol Clin N Am (2013) 0.81
The VHL gene is epigenetically inactivated in pheochromocytomas and abdominal paragangliomas. Epigenetics (2013) 0.81
Acetoacetate Accelerates Muscle Regeneration and Ameliorates Muscular Dystrophy in Mice. J Biol Chem (2015) 0.79
Mutation screening in a Norwegian cohort with pheochromocytoma. Fam Cancer (2013) 0.78
Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease. Biosci Rep (2016) 0.78
Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution. Horm Metab Res (2012) 0.77
Where metabolism meets oncogenesis: another false lead? Lancet Oncol (2010) 0.77
Decoding Warburg's hypothesis: tumor-related mutations in the mitochondrial respiratory chain. Oncotarget (2015) 0.76
Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches. Front Endocrinol (Lausanne) (2015) 0.76
Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects. Eur Thyroid J (2016) 0.75
Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. Clin Med Insights Endocrinol Diabetes (2017) 0.75
Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma. PLoS One (2015) 0.75
Global DNA Methylation Analysis Identifies Two Discrete clusters of Pheochromocytoma with Distinct Genomic and Genetic Alterations. Sci Rep (2017) 0.75
Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas. World J Surg (2014) 0.75
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
An Aboriginal Australian genome reveals separate human dispersals into Asia. Science (2011) 4.84
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
Adjuvant procarbazine, lomustine, and vincristine chemotherapy in newly diagnosed anaplastic oligodendroglioma: long-term follow-up of EORTC brain tumor group study 26951. J Clin Oncol (2012) 4.70
The role of selection in the evolution of human mitochondrial genomes. Genetics (2005) 4.56
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science (2009) 3.72
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group. Clin Cancer Res (2010) 3.13
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol (2009) 3.05
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
CHEK2 1100delC mutation is frequent among Russian breast cancer patients. Breast Cancer Res Treat (2006) 2.85
Verification and unmasking of widely used human esophageal adenocarcinoma cell lines. J Natl Cancer Inst (2010) 2.79
Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines. Breast Cancer Res Treat (2009) 2.76
Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study. Lancet Oncol (2011) 2.75
An expert consensus statement on use of adrenal vein sampling for the subtyping of primary aldosteronism. Hypertension (2013) 2.72
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma. J Clin Oncol (2007) 2.60
Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol (2012) 2.59
Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst (2009) 2.56
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 2.54
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology (2009) 2.42
Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab (2007) 2.41
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Self-measurement of blood pressure at home reduces the need for antihypertensive drugs: a randomized, controlled trial. Hypertension (2007) 2.33
Mannose binding lectin gene polymorphisms confer a major risk for severe infections after liver transplantation. Gastroenterology (2005) 2.30
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet (2011) 2.29
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
Chorioamnionitis alters the response to surfactant in preterm infants. J Pediatr (2010) 2.26
Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clin Chem (2011) 2.24
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
A subset of head and neck squamous cell carcinomas exhibits integration of HPV 16/18 DNA and overexpression of p16INK4A and p53 in the absence of mutations in p53 exons 5-8. Int J Cancer (2003) 2.24
Vascularized tissue to reduce fistula following salvage total laryngectomy: a systematic review. Laryngoscope (2014) 2.21
Malignant pheochromocytoma: current status and initiatives for future progress. Endocr Relat Cancer (2004) 2.20
Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study. J Am Coll Cardiol (2013) 2.18
Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res (2004) 2.17
Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers. Int J Cancer (2012) 2.15
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Seasonal variation in plasma free normetanephrine concentrations: implications for biochemical diagnosis of pheochromocytoma. Eur J Endocrinol (2014) 2.13
Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. J Natl Cancer Inst (2013) 2.13
Systematic review: diagnostic procedures to differentiate unilateral from bilateral adrenal abnormality in primary aldosteronism. Ann Intern Med (2009) 2.12
Microsatellite instability, mismatch repair deficiency, and BRAF mutation in treatment-resistant germ cell tumors. J Clin Oncol (2009) 2.11
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet (2007) 2.04
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Inferring human population sizes, divergence times and rates of gene flow from mitochondrial, X and Y chromosome resequencing data. Genetics (2007) 2.00
MGMT promoter methylation is prognostic but not predictive for outcome to adjuvant PCV chemotherapy in anaplastic oligodendroglial tumors: a report from EORTC Brain Tumor Group Study 26951. J Clin Oncol (2009) 1.99
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
Contemporary management of lymph node metastases from an unknown primary to the neck: I. A review of diagnostic approaches. Head Neck (2011) 1.97
CD44 expression predicts local recurrence after radiotherapy in larynx cancer. Clin Cancer Res (2010) 1.97
Bone-anchored hearing implant loading at 3 weeks: stability and tolerability after 6 months. Otol Neurotol (2013) 1.94
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet (2004) 1.88
Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet (2010) 1.88
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet (2005) 1.85
Consensus statements on the BAHA system: where do we stand at present? Ann Otol Rhinol Laryngol Suppl (2005) 1.85
Establishment and characterization of a bona fide Barrett esophagus-associated adenocarcinoma cell line. Cancer Biol Ther (2008) 1.83
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res (2012) 1.81
Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome. Gastroenterology (2008) 1.79
Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet (2011) 1.78
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78
Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. Eur J Endocrinol (2009) 1.78
Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. Eur J Med Genet (2008) 1.77
Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry. Am J Hum Genet (2006) 1.76
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev (2007) 1.75
Cardiovascular manifestations of phaeochromocytoma. J Hypertens (2011) 1.74
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res (2004) 1.74
Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat (2012) 1.74
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
The miR-200 family controls beta-tubulin III expression and is associated with paclitaxel-based treatment response and progression-free survival in ovarian cancer patients. Endocr Relat Cancer (2010) 1.73
Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study. J Assoc Res Otolaryngol (2008) 1.73