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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 -
Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants2020 Genetics in Medicine erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Joanna Kennedy, David R. Goudie, Edward M. Blair, Kate Chandler, Shelagh K. Joss, Victoria H. McKay, +49 more
0citations -
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 -
Abstract 4363865: Unaffected Carriers of a Pathogenic BMPR2 Variant Exhibit a Distinct Cytokine Signature Associated with Subclinical Changes on Right Ventricular and Pulmonary Vascular Imaging
Clarissa Becher, Carolina Janssen-Telders, Jessie van Wezenbeek, Aida Llucià Valldeperas, JanWillem Duitman, Marie‐José Goumans, +2 more
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 -
Validation of the BOADICEA Model in a Prospective Cohort of BRCA1/2 Pathogenic Variant Carriers2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Thea M. Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, +34 more
2citations -
Cancer worry among BRCA1/2 pathogenic variant carriers choosing surgery to prevent tubal/ovarian cancer: course over time and associated factors2022 Supportive Care in Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Majke H.D. van Bommel, Miranda P. Steenbeek, Joanna IntHout, Rosella Hermens, Marline G. Harmsen, Helena C. van Doorn, +14 more
10citations -
Pancreatic cancer surveillance: Risk stratification of individuals with a germline CDKN2A pathogenic variant2024 United European Gastroenterology Journal article Medicine Pancreatic and Hepatic Oncology Research Open access
Derk C.F. Klatte, Jihane Meziani, Djuna L. Cahen, Merel van Diepen, Marco J. Bruno, Monique Esther van Leerdam
6citations -
High-grade serous carcinoma occurring after risk-reducing salpingo-oophorectomy in BRCA1/2 germline pathogenic variant carriers2024 JNCI Journal of the National Cancer Institute article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Marise M. Wagner, Refika Yigit, Helena C. van Doorn, +13 more
5citations -
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant2024 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anke M. Onnekink, Derk C.F. Klatte, Jeanin Elise van Hooft, S. H. van den Berg, S. M. S. van der Zwaan, Remco van Doorn, +4 more
4citations -
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives2024 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Margreet G.E.M. Ausems, Gina Schijven, Inge M. van Oort, C. Marleen Kets, Fenne L. Komdeur, +5 more
3citations -
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant2025 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anke M. Onnekink, Derk C.F. Klatte, Jeanin Elise van Hooft, S. H. van den Berg, S. M. S. van der Zwaan, Remco van Doorn, +4 more
2citations -
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers2024 Gynecologic Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Mathilde Jalving, Marise M. Wagner, Refika Yigit, +21 more
2citations -
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence2020 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christian Thomas Hübner, Robert Meyer, Asmaa Kenawy, Laima Ambrozaitytė, Aušra Matulevičienė, Florian Kraft, +3 more
27citations