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Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants2023 The Lancet Diabetes & Endocrinology article Medicine Adrenal and Paraganglionic Tumors Open access
David Taïeb, George B. Wanna, Maleeha F. Ahmad, Charlotte Lussey‐Lepoutre, Nancy D. Perrier, Svenja Nölting, +37 more
92citations -
Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants2025 British Journal of Dermatology article Biochemistry, Genetics and Molecular Biology Skin and Cellular Biology Research Open access
Henriette Jopp, A Kraft, Bernd Hoffmann, Rudolf Merkel, M. Bishr Omary, Cristina Has, +2 more
3citations -
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Sarah R. Senum, Ying Li, Katherine Angela Benson, Giancarlo Joli, Eric Gregory Olinger, Sravanthi Lavu, +22 more
180citations -
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data2024 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Judith S. Renes, Ardine Reedijk, Monique Losekoot, Sarina G. Kant, Manouk van der Steen, Daniëlle C M van der Kaay, +2 more
12citations -
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas Janecke, +34 more
43citations -
Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer2022 Annals of Oncology article Medicine PARP inhibition in cancer therapy Open access cited by 1 patent
Charles E. Geyer, Judy Ellen Garber, Richard D. Gelber, Greg Yothers, L. Ross, Priya Rastogi, +90 more
473citations -
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK22024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Snežana Hinić, Cezary Cybulski, Rachel S. van der Post, Janet R. Vos, Janneke H. M. Schuurs-Hoeijmakers, Fulvia Brugnoletti, +23 more
15citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2025 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +87 more
11citations -
Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences2021 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mary E. Velthuizen, Rob B. van der Luijt, B.J. de Vries, Marco J. Koudijs, Eveline M. A. Bleiker, Margreet G.E.M. Ausems
9citations -
Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants2021 Cancers article Biochemistry, Genetics and Molecular Biology Melanoma and MAPK Pathways Open access
Francesco Spagnolo, Bruna Dalmasso, Enrica T. Tanda, Míriam Potrony, Susana Puig, Remco van Doorn, +4 more
9citations -
Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study
Elizabeth Kathryn Bancroft, Elizabeth C. Page, Jana Kathlyn McHugh, Sarah Thomas, Natalie Taylor, Jennifer Pope, +94 more
9citations -
Bioassay-confirmed Pathogenic De Novo ATP1A1 Variants Cause a Complex Neurodevelopmental Syndrome (S29.009)2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +5 more
0citations -
Prevalence and Prognostic Impact of Pathogenic Variants in Patients With Dilated Cardiomyopathy Referred for Ventricular Tachycardia Ablation2020 JACC. Clinical electrophysiology article Medicine Cardiomyopathy and Myosin Studies Open access
Micaela Ebert, Adrianus P. Pieter Wijnmaalen, Marta Riva, Serge A.I.P. Trines, Alexander F.A. Androulakis, Claire A. Glashan, +4 more
47citations -
Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age2025 Journal of Pediatric Endocrinology and Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors
María Isabel Hernández, Vivian Gallardo, Nancy Unanue, Hermine A. van Duyvenvoorde, Verónica Mericq G
0citations -
Surgical outcomes after pancreatic surgery in patients with a germline CDKN2A/p16 pathogenic variant under surveillance2023 British journal of surgery article Medicine Pancreatic and Hepatic Oncology Research Open access
Anke M. Onnekink, Nynke Michiels, Derk C.F. Klatte, Lotte Oldenburg, J. Sven D. Mieog, Alexander L. Vahrmeijer, +3 more
3citations -
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group2021 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona I. Lalloo, Marc D. Tischkowitz, Karin Wadt, +37 more
61citations -
Development of cardiovascular risk factors in women with a BRCA1/2 pathogenic variant within five years after tubo-ovarian cancer risk reduction in the TUBA study2026 Maturitas article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Tamar Anna Gootzen, Marleen Mhj Van Gelder, Rosella P.m.g. Hermens, Majke H.D. van Bommel, Mirjam J. A. Apperloo, Marieke de Jong-Arts, +20 more
2citations