Dr. med. Bernt Popp



Organisationseinheit


Lehrstuhl für Humangenetik
Humangenetisches Institut


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
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
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
Knaup, K.X., Hackenbeck, T., Popp, B., Stoeckert, J., Wenzel, A., Büttner-Herold, M.,... Wiesener, M.S. (2018). Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. Journal of the American Society of Nephrology. https://dx.doi.org/10.1681/ASN.2018030245
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
Tørring, P.M., Larsen, M.J., Brasch-Andersen, C., Krogh, L.N., Kibæk, M., Laulund, L.,... Fagerberg, C.R. (2018). Is MED13L-related intellectual disability a recognizable syndrome? European Journal of Medical Genetics. https://dx.doi.org/10.1016/j.ejmg.2018.06.014
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
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

Zuletzt aktualisiert 2017-11-01 um 04:25