Nadine Hauer



Organisationseinheit


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. https://dx.doi.org/10.1038/s41431-019-0362-0
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-. https://dx.doi.org/10.1371/journal.pgen.1008088
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. https://dx.doi.org/10.1038/gim.2017.159
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. https://dx.doi.org/10.1038/s41431-018-0148-9
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. https://dx.doi.org/10.1038/s41598-017-12465-6
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. https://dx.doi.org/10.1002/humu.22711

Zuletzt aktualisiert 2017-30-03 um 02:00