PD Dr. Christian Thiel


Medizinische Fakultät

Publikationen (Download BibTeX)

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Borggraefe, I., Tacke, M., Gerstl, L., Leiz, S., Coras, R., Blümcke, I.,... Peraud, A. (2019). Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy. Epileptic Disorders, 21(1), 122-127. https://dx.doi.org/10.1684/epd.2019.1037
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
Hsieh, T.C., Mensah, M.A., Pantel, J.T., Aguilar, D., Bar, O., Bayat, A.,... Krawitz, P.M. (2019). PEDIA: prioritization of exome data by image analysis. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-019-0566-2
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
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
Hebebrand, M., Vasileiou, G., Krumbiegel, M., Kraus, C., Uebe, S., Ekici, A.B.,... Popp, B. (2018). A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. American Journal of Medical Genetics Part A. https://dx.doi.org/10.1002/ajmg.a.60679
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
Graul-Neumann, L.M., Mensah, M.A., Klopocki, E., Uebe, S., Ekici, A.B., Thiel, C.,... 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. (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

Zuletzt aktualisiert 2019-01-04 um 23:52