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Associations between common genetic variants and income provide insights about the socio-economic health gradient2025 Nature Human Behaviour article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Hyeokmoon Kweon, Casper A.P. Burik, Yuchen Ning, Rafael Ahlskog, Charley Xia, Erik Abner, +62 more
30citations -
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Angela Rita Puma, Giulia Tammam, Andra Ezaru, Abderhmane Slioui, Eleonora Torchia, Giorgio A. Tasca, +8 more
15citations -
Scoping review of genetic databases for rare dermatologic diseases: Opportunity for artificial intelligence and machine learning2023 JAAD International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Celine M. Schreidah, George Bingham Reynolds, Lauren M. Fahmy, Richard D. Carvajal, Maarten H. Vermeer, Sean J Whittaker, +2 more
6citations -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Genomic and phenomic insights from an atlas of genetic effects on DNA methylation2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Josine L. Min, Gibran Hemani, Eilis J. Hannon, Koen F. Dekkers, Juan Castillo Fernandez, René Luijk, +92 more
36citations -
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers, Arjan C. Houweling, Marieke J.H. Baars, +13 more
0citations -
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +93 more
56citations -
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +25 more
6citations -
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Joost Brinks, Jacoline ten Brink, Ralph J. Florijn, +4 more
40citations -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant2021 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anne Brédart, Antoine De Pauw, Amélie Anota, Anja Tüchler, Julia Dick, A. G. S. Muller, +6 more
11citations -
Associations between common genetic variants and income provide insights about the socioeconomic health gradient2024 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Philipp Koellinger, Hyeokmoon Kweon, Casper A.P. Burik, Yuchen Ning, Rafael Ahlskog, Charley Xia, +62 more
1citations -
Genetic Diversity of Botrytis cinerea Revealed by Multilocus Sequencing, and Identification of B. cinerea Populations Showing Genetic Isolation and Distinct Host Adaptation2021 Frontiers in Plant Science article Biochemistry, Genetics and Molecular Biology Plant Pathogens and Fungal Diseases Open access
Cecilia Plesken, Patrick Pattar, Bianka Reiss, Zinnia Naoshin Noor, Lisha Zhang, Klaus Klug, +2 more
57citations -
Stepwise ABC system for classification of any type of genetic variant2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 2 patents
Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen
102citations -
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation2021 Nature Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Josine L. Min, Gibran Hemani, Eilis J. Hannon, Koen F. Dekkers, Juan Castillo Fernandez, René Luijk, +92 more
509citations -
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +27 more
82citations -
Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study2024 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Calvin B. van Kwawegen, Ferdows Atiq, Dara Endenburg, Karin Fijnvandraat, Karin P. M. van Galen, Marjon H. Cnossen, +8 more
7citations -
Double Trouble: A Comprehensive Study Into Unrelated Genetic Comorbidities in Adult Patients with Facioscapuluhumeral Muscular Dystrophy Type I2024 Research Square preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Sabrina Sacconi, Angela Rita Puma, Giulia Tammam, Andra Ezaru, Abderhmane Slioui, Mauro Monforte, +8 more
0citations