Author Hackmann, Karl

• 2015 | Journal Article
  ​ ​Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies​
  Rath, M.; Najm, J.; Sirb, H.; Kentouche, K.; Dufke, A.; Pauli, S. & Hackmann, K. et al.​ (2015) 
  Hämostaseologie, 35(4A) pp. S36​-S42​.​
  ​Details  PMID  PMC  WoS 

• 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
  ​ ​NGS-based multi-gene panel analysis in BRCA1/2 -negative breast and ovarian cancer families.​
  Pohl, E.; Hauke, J.; Horvath, J.; Dworniczak, B.; Gehrig, A.; Niederacher, D. & Arnold, N. et al.​ (2017) 
  Journal of Clinical Oncology, 35(15_suppl) pp. 1526​-1526​.​ DOI: https://doi.org/10.1200/JCO.2017.35.15_suppl.1526 
  ​Details  DOI 

• 2017 | Journal Article
  ​ ​Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease​
  Lahut, S.; Gispert, S.; Ömür, Ö.; Depboylu, C.; Seidel, K.; Domínguez-Bautista, J. A. & Brehm, N. et al.​ (2017) 
  Disease Models & Mechanisms, 10(5) pp. 619​-631​.​ DOI: https://doi.org/10.1242/dmm.028035 
  ​Details  DOI 

• 2018 | Journal Article
  ​ ​Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer​
  Hauke, J.; Horvath, J.; Groß, E.; Gehrig, A.; Honisch, E.; Hackmann, K. & Schmidt, G. et al.​ (2018) 
  Cancer Medicine, 7(4) pp. 1349​-1358​.​ DOI: https://doi.org/10.1002/cam4.1376 
  ​Details  DOI 

• 2022 | Journal Article | Research Paper | 
  ​ ​Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry​
  Dumont, M.; Weber-Lassalle, N.; Joly-Beauparlant, C.; Ernst, C.; Droit, A.; Feng, B.-J. & Dubois, S. et al.​ (2022) 
  Cancers, 14(14).​ DOI: https://doi.org/10.3390/cancers14143363 
  ​Details  DOI 

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