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Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +33 more
31citations -
Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity2020 Aging Cell article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Danielle Gutman, Gabriel Arie Lidzbarsky, Sofiya Milman, Tina Gao, Patrick Sin‐Chan, Claudia G. Gonzaga-Jauregui, +4 more
13citations -
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 -
Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis2021 Gynecologic Oncology review Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Vera M. Witjes, Majke H.D. van Bommel, Marjolijn J. L. Ligtenberg, Janet R. Vos, Marian J.E. Mourits, Margreet G.E.M. Ausems, +2 more
44citations -
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 Figshare other Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 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 -
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare other Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
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 -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2022 Research Square preprint 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, +62 more
0citations -
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 -
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
0citations