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| 35260474 | UK recommendations for <i>SDHA</i> germline genetic testing and surveillance in clinical practice. | J Med Genet | 2023 |
| 37931414 | Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol. | Endocr Connect | 2023 |
| 37285480 | Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease. | J Clin Endocrinol Metab | 2023 |
| 34266904 | Results from London Regional Clinical Genetics services over a 5-year period on germline <i>TP53</i> testing in women diagnosed with breast cancer at <30 years. | J Med Genet | 2022 |
| 36122798 | Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes. | Ann Oncol | 2022 |
| 35157102 | Bladder paragangliomas: a pictorial review. | Abdom Radiol (NY) | 2022 |
| 34906457 | Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. | Genet Med | 2022 |
| 35060925 | Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers. | Endocr Connect | 2022 |
| 34870338 | Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort. | Clin Endocrinol (Oxf) | 2022 |
| 35077220 | Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants. | J Clin Oncol | 2022 |
| 34558728 | SDHC phaeochromocytoma and paraganglioma: A UK-wide case series. | Clin Endocrinol (Oxf) | 2022 |
| 34528717 | A practical guide to genetic testing in endocrinology. | Clin Endocrinol (Oxf) | 2022 |
| 34320204 | Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. | J Natl Cancer Inst | 2022 |
| 34107390 | Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD. | Cancer Genet | 2021 |
| 34855882 | Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance. | PLoS One | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34732400 | Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. | BMJ | 2021 |
| 34678156 | A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. | Lancet Oncol | 2021 |
| 31495749 | Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study. | Eur Urol | 2020 |
| 31723001 | Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness. | Cancer Res | 2020 |
| 31792088 | Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium. | Cancer Epidemiol Biomarkers Prev | 2020 |
| 32430905 | Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort. | Clin Endocrinol (Oxf) | 2020 |
| 32532514 | Prostate Cancer Risk by BRCA2 Genomic Regions. | Eur Urol | 2020 |
| 30312457 | Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. | J Natl Cancer Inst | 2019 |
| 31213659 | Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. | Br J Cancer | 2019 |
| 31498738 | Imaging Features of Succinate Dehydrogenase-deficient Pheochromocytoma-Paraganglioma Syndromes. | Radiographics | 2019 |
| 31537406 | Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers. | Eur Urol | 2019 |
| 29301143 | Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. | Br J Cancer | 2018 |
| 29909963 | Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. | Am J Hum Genet | 2018 |
| 30032180 | Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer". | J Clin Endocrinol Metab | 2018 |
| 31360853 | Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study. | JNCI Cancer Spectr | 2018 |
| 30873510 | The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With <i>BRCA1</i> or <i>BRCA2</i> Mutations. | JNCI Cancer Spectr | 2018 |
| 29446198 | Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Hum Mutat | 2018 |
| 29386252 | Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>. | J Med Genet | 2018 |
| 29460995 | The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. | Hum Mutat | 2018 |
| 29565421 | Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study. | Genet Med | 2018 |
| 29509747 | Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition. | Br J Cancer | 2018 |
| 29706558 | Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. | Lancet Gastroenterol Hepatol | 2018 |
| 29590403 | p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer. | J Clin Endocrinol Metab | 2018 |
| 27704398 | The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A. | Endocr Pathol | 2017 |
| 28448241 | Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. | J Clin Oncol | 2017 |
| 28346442 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. | Nat Genet | 2017 |
| 28091804 | Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls. | Fam Cancer | 2017 |
| 29058716 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. | Nat Genet | 2017 |
| 29026550 | Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy. | Clin Case Rep | 2017 |
| 28632866 | Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. | JAMA | 2017 |
| 28546994 | SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. | Mol Genet Genomic Med | 2017 |
| 27796716 | Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. | Breast Cancer Res Treat | 2017 |
| 26928228 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. | Nat Genet | 2016 |
| 26270788 | Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). | Clin Endocrinol (Oxf) | 2016 |