Klinkhammer, Hannah

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., Danyel, M., Mensah, M. A., Horn, D., Rosnev, S., et al. (2022) · Nature Genetics

Genomics and Rare DiseasesFace recognition and analysis

Cited by 233

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Schmidt, A., Röner, S., Mai, K., Klinkhammer, H., Kircher, M., & Ludwig, K. U. (2022) · Bioinformatics

Genomics and Rare DiseasesProtein Structure and Dynamics

Cited by 79

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

Schmidt, A., Röner, S., Mai, K., Klinkhammer, H., Kircher, M., & Ludwig, K. U. (2023) · Bioinformatics

Genomics and Rare DiseasesProtein Structure and Dynamics

Cited by 79

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18