Nadine Hauer


Lehrstuhl für Humangenetik

Publikationen (Download BibTeX)

Hauer, N., Popp, B., Taher, L., Vogl, C., Dhandapany, P.S., Büttner, C.,... Thiel, C. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European journal of human genetics.
Tiosano, D., Baris, H.N., Chen, A., Hitzert, M.M., Schüler, M., Gulluni, F.,... Buchner, D.A. (2019). Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PLoS Genetics, 15(4), e1008088-.
Hauer, N., Popp, B., Schoeller, E., Schuhmann, S., Heath, K.E., Hisado-Oliva, A.,... Thiel, C. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630-638.
Montalbano, A., Juergensen, L., Fukami, M., Thiel, C., Hauer, N., Roeth, R.,... Rappold, G.A. (2018). Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. European journal of human genetics, 26(8), 1113-1120.
Hauer, N., Sticht, H., Boppudi, S., Büttner, C., Kraus, C., Trautmann, U.,... Thiel, C. (2017). Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Scientific Reports, 7(1), 12225.
Zahnleiter, D., Hauer, N., Keßler, K., Uebe, S., Sugano, Y., Neuhauss, S.C.F.,... Thiel, C. (2015). MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation. Human Mutation, 36(1), 87-97.

Zuletzt aktualisiert 2017-30-03 um 02:00