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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 -
Saturation genome editing of BAP1 functionally classifies somatic and germline variants2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrew J. Waters, Timothy Brendler-Spaeth, Danielle Smith, Victoria Offord, Hong Kee Tan, Yajie Zhao, +15 more
58citations -
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 -
Standardizing variant naming in literature with VariantValidator to increase diagnostic rates2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
John F. Wagstaff, Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, +2 more
19citations -
Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates2024 Nature Genetics erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
John F. Wagstaff, Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, +2 more
1citations -
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2025 Nature Genetics erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +92 more
0citations
6 results