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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 -
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort2021 Frontiers in Neurology article Medicine Parkinson's Disease Mechanisms and Treatments Open access
Tatiana Usnich, Eva‐Juliane Vollstedt, Nathalie Schell, Volha Skrahina, Xenia Bogdanović, Hanaa Gaber, +29 more
9citations -
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria2021 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marielle M. Alders, Alexander J.M. Dingemans, Kareesma Parbhoo, Bregje W.M. van Bon, Jennifer C. Dempsey, +17 more
12citations -
Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Niek de Klein, Freerk van Dijk, Patrick Deelen, Carlos G. Urzúa-Traslaviña, Annique Claringbould, Urmo Võsa, +6 more
3citations -
The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group2024 Investigative Ophthalmology & Visual Science article Medicine Ocular Oncology and Treatments Open access
Natasha M. van Poppelen, Nathalie Cassoux, Joni A. Turunen, Nicole C. Naus, Robert M. Verdijk, Jolanda Vaarwater, +19 more
4citations -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C , RAD51D , BARD1 updates to tumour pathology and cancer incidence2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Andrew Lee, Nasim Mavaddat, Tim J. Carver, Lorenzo Ficorella, Stephanie Archer, Fiona Mary Walter, +15 more
74citations -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 , updates to tumour pathology and cancer incidences2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Andrew Lee, Nasim Mavaddat, Tim J. Carver, Stephanie Archer, Fiona Mary Walter, Marc D. Tischkowitz, +14 more
6citations -
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 supplementary-materials 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 -
Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer2026 Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Lambertus A.L.M. Kiemeney, Wouter Koole, Inge M. van Oort, Eveline M. A. Bleiker, Margreet G.E.M. Ausems, +1 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 -
NaV1.7, 1.8 and 1.9 mutations linked to painful channelopathies have no pain phenotype in UK Biobank2026 Brain Communications article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Graeme W. T. Newton, Corin Charman, Aidan P. Nickerson, Keith Geoffrey Phillips, Achim Kless, James Philip Dunham, +1 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 -
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays2020 Clinical Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Peter Bouwman, Ingrid van der Heijden, Hanneke van der Gulden, Roebi de Bruijn, Merel E. Braspenning, Setareh Moghadasi, +3 more
39citations -
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 -
Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes2024 Journal of Neuromuscular Diseases article Neuroscience Hereditary Neurological Disorders Open access
Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara, Corinna Preuße, Andreas Laner, +7 more
10citations -
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Paulo C.M. Lyra, Samuel Brito, Michael J. Parsons, Chunling Hu, Thales C. Nepomuceno, Nam Phuong Nguyen, +31 more
0citations -
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort2022 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Linda A.J. Hendricks, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, +31 more
31citations -
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification2022 Circulation Genomic and Precision Medicine article Medicine Cardiomyopathy and Myosin Studies Open access
Marijke H. van der Meulen, Johanna C. Herkert, Susanna L. den Boer, Gideon J. du Marchie Sarvaas, Nico A. Blom, Arend D.J. ten Harkel, +13 more
21citations