Mangold, Elisabeth

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

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

Esparza-Gordillo, J., Schaarschmidt, H., Liang, L., Cookson, W., Bauerfeind, A., Lee-Kirsch, M.-A., Nemat, K., Henderson, J., Paternoster, L., Harper, J. I., et al. (2013) · Journal of Allergy and Clinical Immunology

Dermatology and Skin DiseasesAsthma and respiratory diseases

Cited by 107

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C. W., Khandelwal, K. D., Dreesen, K., Ludwig, K. U., Sullivan, R., van Rooij, I. A. L. M., Thonissen, M., Swinnen, S., Phan, M., Conte, F., et al. (2016) · Genetics in Medicine

dental development and anomaliesCleft Lip and Palate Research

Cited by 78

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Gliem, M., Müller, P. L., Mangold, E., Holz, F. G., Bolz, H. J., Stöhr, H., Weber, B. H. F., & Charbel Issa, P. (2015) · Investigative Opthalmology & Visual Science

Retinal Diseases and TreatmentsRetinal Development and Disorders

Cited by 67