Betz, Regina C.

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

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Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics

Congenital limb and hand anomaliesCraniofacial Disorders and Treatments

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Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia

Lin, Z., Chen, Q., Shi, L., Lee, M., Giehl, K. A., Tang, Z., Wang, H., Zhang, J., Yin, J., Wu, L., et al. (2012) · The American Journal of Human Genetics

Hair Growth and Disordersdental development and anomalies

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