Lehrstuhl für Humangenetik

Schwabachanlage 10
91054 Erlangen

Untergeordnete Organisationseinheiten

Professur für Humangenetik
Professur für Stammzell-Modelle seltener neuraler Erkrankungen

Publikationen (Download BibTeX)

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Popp, B., Agaimy, A., Kraus, C., Knaup, K.X., Ekici, A.B., Uebe, S.,... Zweier, C. (2019). Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. BMC Cancer, 19(1). https://dx.doi.org/10.1186/s12885-019-5633-1
Poettler, M., Fliedner, A., Bergmann, J., Bui, L.K., Mühlberger, M., Braun, C.,... Lyer, S. (2019). Magnetic Tissue Engineering of the Vocal Fold Using Superparamagnetic Iron Oxide Nanoparticles. Tissue Engineering: Parts A, B, and C. https://dx.doi.org/10.1089/ten.tea.2019.0009
Zweier, M., Begemann, A., Mcwalter, K., Cho, M.T., Abela, L., Banka, S.,... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European journal of human genetics, 27(5), 747-759. https://dx.doi.org/10.1038/s41431-018-0331-z
Coll-Tane, M., Krebbers, A., Castells-Nobau, A., Zweier, C., & Schenck, A. (2019). Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila. Disease Models & Mechanisms, 12(5). https://dx.doi.org/10.1242/dmm.039180
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
Siggs, O.M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J.E.H., Taranath, D.,... Craig, J.E. (2019). Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. JAMA Ophthalmology, 137(4), 348-355. https://dx.doi.org/10.1001/jamaophthalmol.2018.5646
Hellwig, M., Lauffer, M.C., Bockmayr, M., Spohn, M., Merk, D.J., Harrison, L.,... Schueller, U. (2019). TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma. Acta Neuropathologica, 137(4), 657-673. https://dx.doi.org/10.1007/s00401-019-01982-5
Zundler, S., Becker, E., Spocinska, M., Slawik, M., Parga-Vidal, L., Stark, R.,... Neurath, M. (2019). Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammation. Nature Immunology, 20(3), 288-+. https://dx.doi.org/10.1038/s41590-018-0298-5
Hebebrand, M., Hüffmeier, U., Trollmann, R., Hehr, U., Uebe, S., Ekici, A.B.,... Popp, B. (2019). The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases, 14. https://dx.doi.org/10.1186/s13023-019-1020-x
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
Jitschin, R., Böttcher, M., Saul, D., Lukassen, S., Bruns, H., Loschinski, R.,... Mougiakakos, D. (2019). Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation. Leukemia. https://dx.doi.org/10.1038/s41375-018-0376-6
Diets, I.J., Hoyer, J., Ekici, A.B., Popp, B., Hoogerbrugge, N., van Reijmersdal, S.V.,... Metzler, M. (2019). TRIM28 haploinsufficiency predisposes to Wilms tumor. International Journal of Cancer. https://dx.doi.org/10.1002/ijc.32167
Gong, B., Zhang, H., Huang, L., Chen, Y., Shi, Y., Tam, P.O.S.,... Yang, Z. (2019). Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-019-0507-0
Hansen, M., Peltier, J., Killy, B., Amin, B., Bodendorfer, B., HäRtlova, A.,... Lang, R. (2019). Macrophage phosphoproteome analysis reveals MINCLE-dependent and-independent mycobacterial cord factor signaling. Molecular & Cellular Proteomics, 18(4), 669-685. https://dx.doi.org/10.1074/mcp.RA118.000929
Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B.,... Reis, A. (2018). Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. American Journal of Human Genetics, 102(3), 468-479. https://dx.doi.org/10.1016/j.ajhg.2018.01.014
Berner, D., Pasutto, F., Hoja, U., Zenkel, M., Ozaki, M., Williams, S.,... Schlötzer-Schrehardt, U. (2018). Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1.
Johnston, J.J., Van Der Smagt, J.J., Rosenfeld, J.A., Pagnamenta, A.T., Alswaid, A., Baker, E.H.,... Biesecker, L.G. (2018). Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genetics in Medicine. https://dx.doi.org/10.1038/gim.2017.249
Graul-Neumann, L.M., Mensah, M.A., Klopocki, E., Uebe, S., Ekici, A.B., Thiel, C.T.,... Zweier, C. (2018). Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. European Journal of Medical Genetics, 61(7), 363-368. https://dx.doi.org/10.1016/j.ejmg.2018.01.016
Hauer, N., Popp, B., Schoeller, E., Schuhmann, S., Heath, K.E., Hisado-Oliva, A.,... Thiel, C.T. (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
Gregor, A., Sadleir, L.G., Asadollahi, R., Azzarello-Burri, S., Battaglia, A., Ousager, L.B.,... Zweier, C. (2018). De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics, 103(2), 305-316. https://dx.doi.org/10.1016/j.ajhg.2018.07.003

Zuletzt aktualisiert 2019-24-04 um 10:29