Author Rump, Andreas

1 to 4 of 4 Items
  • 2006 | Journal Article
    ​ ​A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD)​
    Rump, A.; Rösen-Wolff, A.; Gahr, M.; Seidenberg, J.; Roos, C.; Walter, L. & Günther, V. et al.​ (2006) 
    Gene, 371(2) pp. 174​-181​.​ DOI: https://doi.org/10.1016/j.gene.2005.11.036 
    ​Details  DOI 
  • 2016 | Journal Article | 
    ​ ​Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer​
    Rump, A.; Benet-Pages, A.; Schubert, S.; Kuhlmann, J. D.; Janavičius, R.; Macháčková, E. & Foretová, L. et al.​ (2016) 
    PLOS Genetics, 12(8) art. e1006248​.​ DOI: https://doi.org/10.1371/journal.pgen.1006248 
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article
    ​ ​Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome​
    Di Donato, N.; Kuechler, A.; Vergano, S.; Heinritz, W.; Bodurtha, J.; Merchant, S. R. & Breningstall, G. et al.​ (2016) 
    American Journal of Medical Genetics Part A, 170(10) pp. 2644​-2651​.​ DOI: https://doi.org/10.1002/ajmg.a.37771 
    ​Details  DOI  PMID  PMC  WoS 
  • 2017 | Journal Article
    ​ ​New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy​
    Pinggera, A.; Mackenroth, L.; Rump, A.; Schallner, J.; Beleggia, F.; Wollnik, B.   & Striessnig, J.​ (2017) 
    Human Molecular Genetics, 26(15) pp. 2923​-2932​.​ DOI: https://doi.org/10.1093/hmg/ddx175 
    ​Details  DOI 

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Göttingen All

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