Lehrstuhl für Humangenetik

Schwabachanlage 10
91054 Erlangen

Subordinate Organisational Units

Professur für Humangenetik
Professur für Stammzell-Modelle seltener neuraler Erkrankungen

Publications (Download BibTeX)

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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
Kraus, C., Uebe, S., Thiel, C.T., Ekici, A.B., Reis, A., & Zweier, C. (2018). Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. American Journal of Medical Genetics Part A. https://dx.doi.org/10.1002/ajmg.a.40640
Popp, B., Krumbiegel, M., Grosch, J., Sommer, A., Uebe, S., Kohl, Z.,... Reis, A. (2018). Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. Scientific Reports, 8(1). https://dx.doi.org/10.1038/s41598-018-35506-0
Pasutto, F., Ekici, A.B., Reis, A., Kremers, J., & Huchzermeyer, C. (2018). Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy. Ophthalmic Genetics, 1-8. https://dx.doi.org/10.1080/13816810.2018.1520263
Blok, L.S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H.,... Campeau, P.M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1). https://dx.doi.org/10.1038/s41467-018-06014-6
Basilicata, M.F., Bruel, A.-L., Semplicio, G., Valsecchi, C.I.K., Aktas, T., Duffourd, Y.,... Akhtar, A. (2018). De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics, 50(10), 1442-1451. https://dx.doi.org/10.1038/s41588-018-0220-y
Hoyer, J., Vasileiou, G., Uebe, S., Wunderle, M., Kraus, C., Fasching, P.,... Reis, A. (2018). Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. BMC Cancer, 18(1). https://dx.doi.org/10.1186/s12885-018-4821-8
Büttner, C., Clahsen, T., Regenfuss, B., Dreisow, M.L., Steiber, Z., Bock, F.,... Cursiefen, C. (2018). Tyrosinase is a novel endogenous regulator of developmental and inflammatory lymphangiogenesis. American Journal of Pathology. https://dx.doi.org/10.1016/j.ajpath.2018.10.014
Clahsen, T., Regenfuss, B., Büttner, C., Gabriel, T., Bock, F., Reis, A., & Cursiefen, C. (2018). Tyrosinase downregulates Fibromodulin- induced lymphangiogenesis.
Ivanovski, I., Djuric, O., Caraffi, S.G., Santodirocco, D., Pollazzon, M., Rosato, S.,... Garavelli, L. (2018). Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genetics in Medicine, 20(9), 965-975. https://dx.doi.org/10.1038/gim.2017.221
Pasutto, F., Zenkel, M., Berner, D., Uebe, S., Ekici, A.B., Kruse, F.,... Schlötzer-Schrehardt, U. (2018). RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects.
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
Wunderle, M., Gaß, P., Häberle, L., Flesch, V.M., Rauh, C., Bani, M.,... Hein, A. (2018). BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients. Breast Cancer Research and Treatment, 171(1), 85-94. https://dx.doi.org/10.1007/s10549-018-4797-8
Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57. https://dx.doi.org/10.1016/j.ajhg.2017.11.008
Zhong, J., Scholz, T., Yau, A.C.Y., Guerard, S., Hüffmeier, U., Burkhardt, H., & Holmdahl, R. (2018). Mannan-induced Nos2 in macrophages enhances IL-17-driven psoriatic arthritis by innate lymphocytes. Science Advances, 4(5). https://dx.doi.org/10.1126/sciadv.aas9864
Rath, T., Billmeier, U., Ferrazzi, F., Vieth, M., Ekici, A.B., Neurath, M., & Atreya, R. (2018). Effects of Anti-Integrin Treatment With Vedolizumab on Immune Pathways and Cytokines in Inflammatory Bowel Diseases. Frontiers in Immunology, 9. https://dx.doi.org/10.3389/fimmu.2018.01700

Last updated on 2019-24-04 at 10:29