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6513 Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age2024 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
M Hernandez, Nancy Unanue, Hermine van Duyvenvoorde, Verónica Mericq G
0citations -
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inge M. M. Lakeman, Alexandra J. van den Broek, Julien A M Vos, Daniel R. Barnes, Julian Adlard, Irene L. Andrulis, +91 more
37citations -
Metachronous colorectal cancer risk according to Lynch syndrome pathogenic variant after extensive versus partial colectomy in the Netherlands: a retrospective cohort study2023 The Lancet. Gastroenterology & hepatology article Medicine Genetic factors in colorectal cancer Open access
Ellis L. Eikenboom, Sarah Moen, Monique Esther van Leerdam, Grigorios Papageorgiou, Michail Doukas, Pieter Job Tanis, +3 more
26citations -
Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma” by Cárcamo et al. 20222022 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Elizabeth R. Roeder, Marjolijn C.J. Jongmans, Gijs W.E. Santen
2citations -
Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case2022 Journal of Paediatrics and Child Health article Medicine Platelet Disorders and Treatments Open access
Inez M Vanholder, Ginette M. Ecury‐Goossen, Jop Admiraal, Leendert Porcelijn, Rosalina ML van Spaendonk, Samantha Claudia Gouw
1citations -
Psychosocial distress and quality of life in families with a germline CDKN2A pathogenic variant2024 Pancreatology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Anke M. Onnekink, Derk C.F. Klatte, Jeanin Elise van Hooft, Sanne van der Zwaan, Remco van Doorn, Chris Hinnen, +3 more
0citations -
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Journal of Medical Case Reports article Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler
0citations -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes2022 JAMA Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Nasim Mavaddat, Leila Dorling, Jamie Allen, Anna González‐Neira, Renske Keeman, Manjeet K. Bolla, +85 more
171citations -
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non‐high‐grade serous ovarian carcinomas2023 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Claire J.H. Kramer, Lieke Lanjouw, Dina Ruano, Arja ter Elst, Giacomo Santandrea, Nienke Solleveld‐Westerink, +13 more
8citations -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2023 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Taru Muranen, Anna Morra, Sofia Khan, Daniel R. Barnes, Manjeet K. Bolla, Joe Dennis, +61 more
7citations -
Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer2025 British Journal of Urology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Wouter Koole, R. Jeroen A. van Moorselaar, Eveline M. A. Bleiker, Ellen van de Geer, Hanneke W. M. van Deutekom, +11 more
3citations -
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Burcu Yaldız, Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Steven Laurie, Wouter Steyaert, +67 more
3citations -
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisa Calì, Mohnish Suri, Marcello Scala, Matteo Paolo Ferla, Shahryar Alavi, Eissa Faqeih, +60 more
9citations -
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, +55 more
32citations -
High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors2023 Journal of Clinical Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Denise J. Stommel-Jenner, Marise M. Wagner, Helena C. van Doorn, +15 more
15citations -
Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies2026 BJC Reports article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Isaac Allen, Nancy Whish, Siddhartha Yadav, Nicholas James Boddicker, Caroline A. Drukker, Irma van de Beek, +8 more
0citations -
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants2020 Journal of Medical Genetics article Medicine Pancreatic and Hepatic Oncology Research Open access
Kasper A. Overbeek, Mar D M Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C. van den Akker, Jan C. Oosterwijk, +7 more
31citations -
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants2025 Journal of the American Society of Nephrology article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Tabinda Jawaid, Doaa E. Elbarougy, Sravanthi Lavu, Guillaume Buia, Sarah R. Senum, Eric Gregory Olinger, +34 more
16citations -
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Emilia D’Angelo, Laura Pignata, Francesco Cecere, Alessandro Vimercati, Maria Vittoria Cubellis, Abu Saadat, +9 more
2citations -
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study2023 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Yolanda Soto Serrano, Keren Reche Yebra, J. Marty Lobo, B. González Martínez, María Bravo García‐Morato, +3 more
4citations