@article{UBHD-67887734,
  author={Bauer, Ralf and Dikow, Nicola and Brauer, Andreas and Kreuter, Michael and Buß, Sebastian Johannes and Evers, Christina and R{\"o}cken, Christoph and Schnabel, Philipp Albert and Hinderhofer, Katrin and Ehlermann, Philipp and Katus, Hugo and Kristen, Arnt},
  title={The "Wagshurst study"},
  subtitle={p. Val40Ile transthyretin gene variant causes late-onset cardiomyopathy},
  year={2014},
  pages={267-275},
  language={eng},
  issn={1744-2818},
  volume={21},
  number={4},
  note={Gesehen am 16.10.2015},
  journal={Amyloid},
  doi={10.3109/13506129.2014.967846},
}
@article{UBHD-68323698,
  author={Behnecke, Anne and Dikow, Nicola and Moog, Ute},
  title={How fingers and face can be the clue?},
  year={2012},
  pages={e27-e28},
  language={eng},
  issn={1468-1331},
  volume={19},
  number={3},
  note={Received 28 September 2011, accepted 17 November 2011, first published: 14 February 2012 ; Gesehen am 31.10.2018},
  journal={European journal of neurology},
  doi={10.1111/j.1468-1331.2011.03622.x},
}
@article{UBHD-69272299,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Comparative analysis of gene and disease selection in genomic newborn screening studies},
  year={2024},
  pages={945-970},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={5 vom: Sept.},
  note={Ver{\"o}ffentlicht: 16 May 2024 ; Gesehen am 11.11.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12750},
}
@article{UBHD-69356597,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Response to Downie et al.},
  year={2025},
  pages={1-2},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Online ver{\"o}ffentlicht: 14 Januar 2025 ; Gesehen am 16.06.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12837},
}
@article{UBHD-69106982,
  author={Dietrich, Carmen and Salzmann, Martin and Streit, Enrico and Toberer, Ferdinand and Emmert, Steffen and Dikow, Nicola and H{\"a}nßle, Holger},
  title={Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl},
  year={2021},
  pages={e615-e617},
  language={eng},
  issn={1440-0960},
  volume={62},
  number={4},
  note={Gesehen am 07.08.2023},
  journal={Australasian journal of dermatology},
  doi={10.1111/ajd.13724},
  url={https://doi.org/10.1111/ajd.13724},
  library={UB},
}
@article{UBHD-67879207,
  author={Dikow, Nicola and Maas, Bianca and Karch, Stephanie and Granzow, Martin and Janssen, Johannes W. G. and Jauch, Anna and Hinderhofer, Katrin and Sutter, Christian and Schubert-Bast, Susanne and Moog, Ute},
  title={3p25.3 Microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior},
  year={2014},
  pages={3061-3068},
  language={eng},
  issn={1552-4833},
  volume={164},
  number={12},
  note={Gesehen am 30.09.2015},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.36761},
}
@article{UBHD-69036398,
  author={Dikow, Nicola and Junge, C. and Karch, Stephanie and Hinderhofer, Katrin and Froster, U.G. and Moog, Ute},
  title={Alpha-Thalass{\"a}mie-Retardierungs-Syndrom},
  subtitle={ATRX-Syndrom bei 2 Jungen mit mentaler Retardierung und Muskelhypotonie},
  year={2010},
  pages={1248-1251},
  language={ger},
  issn={1433-0474},
  volume={158},
  number={12},
  note={Gesehen am 02.02.2023},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-010-2244-y},
}
@article{UBHD-68319107,
  author={Dikow, Nicola and Granzow, Martin and Karch, Stephanie and Hinderhofer, Katrin and Paramasivam, Nagarajan and Kaufmann, Lilian and Fischer, Christine and Evers, Christina and Eils, Roland and Bartram, Claus R. and Moog, Ute},
  title={DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome},
  year={2017},
  pages={1369-1373},
  language={eng},
  issn={1552-4833},
  volume={173},
  number={5},
  note={Gesehen am 19.10.2018},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.38164},
}
@article{UBHD-68941126,
  author={Dikow, Nicola and Ditzen, Beate and K{\"o}lker, Stefan and Hoffmann, Georg F. and Schaaf, Christian P.},
  title={From newborn screening to genomic medicine},
  subtitle={challenges and suggestions on how to incorporate genomic newborn screening in public health programs},
  year={2022},
  pages={13-20},
  language={eng},
  issn={1863-5490},
  volume={34},
  number={1},
  note={Gesehen am 13.07.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2022-2113},
}
@article{UBHD-68673938,
  author={Dikow, Nicola and Maas, Bianca and Gaspar, Harald and Kreiss‐Nachtsheim, Martina and Engels, Hartmut and Kuechler, Alma and Garbes, Lutz and Netzer, Christian and Neuhann, Teresa M. and Koehler, Udo and Casteels, Kristina and Devriendt, Koen and Janssen, Johannes W. G. and Jauch, Anna and Hinderhofer, Katrin and Moog, Ute},
  title={The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1},
  subtitle={is it really a reversed sotos syndrome?},
  year={2013},
  pages={2158-2166},
  language={eng},
  issn={1552-4833},
  volume={161},
  number={9},
  note={Gesehen am 16.12.2020},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.36046},
}
@article{UBHD-68384920,
  author={Dikow, Nicola and Moog, Ute and Karch, Stephanie and Sander, Anja and Kilian, Samuel and Reuner, Gitta},
  title={What do parents expect from a genetic diagnosis of their child with intellectual disability?},
  year={2019},
  pages={1-9},
  language={eng},
  issn={1468-3148},
  note={Gesehen am 06.05.2019},
  journal={Journal of applied research in intellectual disabilities},
  doi={10.1111/jar.12602},
}
@article{UBHD-69106183,
  author={Ecker, Jonas and Selt, Florian and Sturm, Dominik and Sill, Martin and Korshunov, Andrey and Hirsch, Steffen and Capper, David and Dikow, Nicola and Sutter, Christian and M{\"u}ller, Carina and Sigaud, Romain and Eggert, Angelika and Simon, Thorsten and Niehues, Tim and Deimling, Andreas von and Pajtler, Kristian Wilfried and Tilburg, Cornelis M. van and Jones, David T. W. and Sahm, Felix and Pfister, Stefan and Witt, Olaf and Milde, Till},
  title={Corrigendum to ‘Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry’ [Eur J Cancer 180 (2023) 71-84]},
  year={2023},
  pages={200-201},
  language={eng},
  issn={1879-0852},
  volume={184(2023) vom: Mai},
  note={Online verf{\"u}gbar: 21. M{\"a}rz 2023, Artikelversion: 11. April 2023 ; Gesehen am 03.08.2023},
  journal={European journal of cancer},
  doi={10.1016/j.ejca.2023.02.024},
}
@article{UBHD-69054224,
  author={Ecker, Jonas and Selt, Florian and Sturm, Dominik and Sill, Martin and Korshunov, Andrey and Hirsch, Steffen and Capper, David and Dikow, Nicola and Sutter, Christian and M{\"u}ller, Carina and Sigaud, Romain and Eggert, Angelika and Simon, Thorsten and Niehues, Tim and Deimling, Andreas von and Pajtler, Kristian Wilfried and Tilburg, Cornelis M. van and Jones, David T. W. and Sahm, Felix and Pfister, Stefan and Witt, Olaf and Milde, Till},
  title={Molecular diagnostics enables detection of actionable targets},
  subtitle={the Pediatric Targeted Therapy 2.0 registry},
  year={2023},
  pages={71-84},
  language={eng},
  issn={1879-0852},
  volume={180(2023) vom: Feb.},
  note={Online ver{\"o}ffentlicht am 25. November 2022, Artikelversion vom 19. Dezember 2022 ; Gesehen am 22.11.2023},
  journal={European journal of cancer},
  doi={10.1016/j.ejca.2022.11.015},
}
@article{UBHD-68202341,
  author={Eismann, Sabine and Vetter, Lisa Marie Andrea and Keller, Monika and Bruckner, Thomas and Golatta, Michael and Hennigs, André and Domschke, Christoph and Dikow, Nicola and Sohn, Christof and Heil, J{\"o}rg and Schott, Sarah},
  title={Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer},
  year={2016},
  pages={1011-1018},
  language={eng},
  issn={1432-0711},
  volume={294},
  number={5},
  note={Gesehen am 15.12.2017},
  journal={Archives of gynecology and obstetrics},
  doi={10.1007/s00404-016-4133-7},
}
@article{UBHD-68678700,
  author={Engel, Christoph and Fischer, Christine and Zachariae, Silke and Bucksch, Karolin and Rhiem, Kerstin and Giesecke, Jutta and Herold, Natalie and Wappenschmidt, Barbara and H{\"u}bbel, Verena and Maringa, Monika and Reichstein‐Gnielinski, Simone and Hahnen, Eric and Bartram, Claus R. and Dikow, Nicola and Schott, Sarah and Speiser, Dorothee and Horn, Denise and Fallenberg, Eva M. and Kiechle, Marion and Quante, Anne S. and Vesper, Anne-Sophie and Fehm, Tanja and Mundhenke, Christoph and Arnold, Norbert and Leinert, Elena and Just, Walter and Siebers‐Renelt, Ulrike and Weigel, Stefanie and Gehrig, Andrea and W{\"o}ckel, Achim and Schlegelberger, Brigitte and Pertschy, Stefanie and Kast, Karin and Wimberger, Pauline and Briest, Susanne and Loeffler, Markus and Bick, Ulrich and Schmutzler, Rita K.},
  title={Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance},
  year={2020},
  pages={999-1009},
  language={eng},
  issn={1097-0215},
  volume={146},
  number={4},
  note={Online 13 May 2019 ; Gesehen am 11.01.2021},
  journal={International journal of cancer},
  doi={10.1002/ijc.32396},
}
@article{UBHD-68955413,
  author={Erhart, Philipp and K{\"o}rfer, Daniel and Dihlmann, Susanne and Qiao, Jia-Lu and Haußer-Siller, Ingrid and Ringleb, Peter A. and M{\"a}nner, J{\"o}rg and Dikow, Nicola and Schaaf, Christian P. and Grond-Ginsbach, Caspar and B{\"o}ckler, Dittmar},
  title={Multiple arterial dissections and connective tissue abnormalities},
  year={2022},
  pages={1-9},
  language={eng},
  issn={2077-0383},
  volume={11},
  note={Gesehen am 18.08.2022 ; This article belongs to the special issue "New frontiers in the clinical management of stroke"},
  journal={Journal of Clinical Medicine},
  doi={10.3390/jcm11123264},
}
@article{UBHD-68130589,
  author={Evers, Christina and Fischer, Christine and Dikow, Nicola and Schott, Sarah},
  title={Familial breast cancer},
  subtitle={genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect},
  year={2017},
  language={eng},
  issn={1932-6203},
  volume={12(2017},
  note={Gesehen am 22.06.2017},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0177893},
  url={http://dx.doi.org/10.1371/journal.pone.0177893},
  library={UB},
}
@article{UBHD-68720232,
  author={Fischer, Christine and Kuchenb{\"a}cker, Karoline and Engel, Christoph and Zachariae, Silke and Rhiem, Kerstin and Meindl, Alfons and Rahner, Nils and Dikow, Nicola and Plendl, Hansj{\"o}rg and Debatin, Irmgard and Grimm, Tiemo and Gadzicki, Dorothea and Fl{\"o}ttmann, Ricarda and Horvath, Judit and Schr{\"o}ck, Evelin and Stock, Friedrich and Sch{\"a}fer, Dieter and Schwaab, Ira and Kartsonaki, Christiana and Mavaddat, Nasim and Schlegelberger, Brigitte and Antoniou, Antonis C. and Schmutzler, Rita},
  title={Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities},
  subtitle={a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium},
  year={2013},
  pages={360-367},
  language={eng},
  issn={1468-6244},
  volume={50},
  number={6},
  note={Gesehen am 06.04.2021},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2012-101415},
}
@book{UBHD-68664284,
  author={Winkler, Eva C. and Idler, Irina and Beck, Katja and Brors, Benedikt and Cornelius, Kai and Dikow, Nicola and Fr{\"o}hling, Stefan and Glimm, Hanno and Herpel, Esther and Korbel, Jan Oliver and Lichter, Peter and Richter, Daniela and Schickhardt, Christoph and Tanner, Klaus and Wiemann, Stefan and Fleischer, Henrike},
  organization={Projektgruppe EURAT},
  title={Position paper on the release of raw genomic data to patients and study participants},
  publisher={Marsilius-Kolleg},
  address={Heidelberg},
  year={2020},
  pages={1 Online-Ressource (67 Seiten)},
  language={ger and eng},
  number={ARRAY(0x5624ae7d0d68)},
  series={Forum Marsilius-Kolleg},
  note={Gesehen am 23.11.2020},
  doi={10.11588/fmk.2020.0.76125},
  url={http://dx.doi.org/10.11588/fmk.2020.0.76125},
  library={UB},
}
@book{UBHD-69140233,
  author={Jungkunz, Martin and Cornelius, Kai and Schickhardt, Christoph and Dikow, Nicola and Winkler, Eva C. and Brors, Benedikt and Fr{\"o}hling, Stefan and Greulich-Bode, Karin Maria and Idler, Irina and Lichter, Peter and Milde, Till and Pfister, Stefan and Schaaf, Christian P. and Wiemann, Stefan},
  title={Position paper on the return of additional genetic findings in minors},
  publisher={Marsilius-Kolleg},
  address={Heidelberg},
  year={2023},
  pages={1 Online-Ressource (120 Seiten)},
  language={eng},
  number={ARRAY(0x5624ae7c9ae8)},
  series={Forum Marsilius-Kolleg},
  note={Gesehen am 06.11.2023},
  url={https://doi.org/10.11588/fmk.2023.23.100566},
  library={UB},
}
@book{UBHD-69139948,
  author={Jungkunz, Martin and Cornelius, Kai and Schickhardt, Christoph and Dikow, Nicola and Winkler, Eva C. and Brors, Benedikt and Fr{\"o}hling, Stefan and Greulich-Bode, Karin Maria and Idler, Irina and Lichter, Peter and Milde, Till and Pfister, Stefan and Schaaf, Christian P. and Wiemann, Stefan},
  organization={Projektgruppe EURAT},
  title={Stellungnahme zur R{\"u}ckmeldung genetischer Zusatzbefunde Minderj{\"a}hriger},
  publisher={Marsilius-Kolleg},
  address={Heidelberg},
  year={2023},
  pages={1 Online-Ressource (130 Seiten)},
  language={ger},
  number={ARRAY(0x5624ae7e35d8)},
  series={Forum Marsilius-Kolleg},
  note={Gesehen am 06.11.2023},
  doi={10.11588/fmk.2023.23.98739},
  url={https://doi.org/10.11588/fmk.2023.23.98739},
  library={UB},
}
@article{UBHD-67841112,
  author={Haack, Tobias and Kotzaeridou, Urania and Hoffmann, Georg F. and Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter},
  title={Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy},
  year={2015},
  pages={163-169},
  language={eng},
  issn={1537-6605},
  volume={97},
  number={1},
  note={Gesehen am 17.02.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2015.05.009},
}
@article{UBHD-68241850,
  author={Heidemann, Simone and Fischer, Christine and Dikow, Nicola},
  title={Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients},
  subtitle={implications on test strategies and clinical management},
  year={2012},
  pages={1229-1239},
  language={eng},
  issn={1573-7217},
  volume={134},
  number={3},
  note={Gesehen am 11.04.2018},
  journal={Breast cancer research and treatment},
  doi={10.1007/s10549-012-2050-4},
}
@article{UBHD-68808431,
  author={Hirsch, Steffen and Gieldon, Laura and Sutter, Christian and Dikow, Nicola and Schaaf, Christian P.},
  title={Germline testing for homologous recombination repair genes},
  subtitle={opportunities and challenges},
  year={2021},
  pages={332-343},
  language={eng},
  issn={1098-2264},
  volume={60},
  number={5},
  note={First published: 20 October 2020 ; Gesehen am 06.12.2021},
  journal={Genes, chromosomes & cancer},
  doi={10.1002/gcc.22900},
  url={https://doi.org/10.1002/gcc.22900},
  library={UB},
}
@article{UBHD-69079218,
  author={Horak, Peter and Leichsenring, Jonas and Goldschmid, Hannah and Kreutzfeldt, Simon and Kazdal, Daniel and Teleanu, Maria-Veronica and Endris, Volker and Gieldon, Laura and Allg{\"a}uer, Michael and Volckmar, Anna-Lena and Dikow, Nicola and Renner, Marcus and Kirchner, Martina and Penzel, Roland and Pl{\"o}ger, Carolin and Brandt, Regine and Şeker-Cin, Huriye and Budczies, Jan and Heilig, Christoph E. and Neumann, Olaf and Schaaf, Christian P. and Schirmacher, Peter and Fr{\"o}hling, Stefan and Stenzinger, Albrecht},
  title={Assigning evidence to actionability},
  subtitle={an introduction to variant interpretation in precision cancer medicine},
  year={2022},
  pages={303-313},
  language={eng},
  issn={1098-2264},
  volume={61},
  journal={Genes, chromosomes & cancer},
  doi={10.1002/gcc.22987},
}
@article{UBHD-68567972,
  author={Johnson, Brett and Dikow, Nicola},
  title={Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor beta signaling},
  year={2020},
  pages={100-112},
  language={eng},
  issn={1873-2402},
  volume={87},
  number={2},
  note={Online 29 June 2019 ; Gesehen am 20.04.2020},
  journal={Biological psychiatry},
  doi={10.1016/j.biopsych.2019.05.028},
}
@article{UBHD-68229388,
  author={Kast, Karin and Fischer, Christine and Dikow, Nicola and Schott, Sarah},
  title={Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer},
  year={2016},
  pages={465-471},
  language={eng},
  issn={1468-6244},
  volume={53},
  number={7},
  note={Gesehen am 12.03.2018},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2015-103672},
}
@article{UBHD-69295119,
  author={Menzel, Michael and Martis-Thiele, Mihaela and Goldschmid, Hannah and Ott, Alexander and Romanovsky, Eva and Hirsch, Steffen and Dikow, Nicola and G{\"o}bel, Kirsten and Banan, Rouzbeh and Hamelmann, Stefan and Fink, Annette and Ball, Markus and Neumann, Olaf and Sahm, Felix and Klauschen, Frederick and Schaaf, Christian P. and Malek, Nisar and Schirmacher, Peter and Kazdal, Daniel and Pfarr, Nicole and Budczies, Jan and Stenzinger, Albrecht},
  title={Benchmarking whole exome sequencing in the German network for personalized medicine},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1879-0852},
  volume={211},
  number={Artikel-ID 114306},
  note={Gesehen am 28.01.2025 ; Online verf{\"u}gbar: 8. September 2024, Artikelversion: 17. September 2024},
  journal={European journal of cancer},
  doi={10.1016/j.ejca.2024.114306},
}
@article{UBHD-69009020,
  author={Pixberg, Constantin Frederic and Zapatka, Marc and Hlevnjak, M. and Benedetto, S. and Suppelna, J. P. and Heil, J{\"o}rg and Smetanay, Katharina and Michel, Laura L. and Fremd, Carlo and K{\"o}rber, V. and R{\"u}bsam, M. and Buschhorn, Lars and Heublein, Sabine and Sch{\"a}fgen, Benedikt and Golatta, Michael and Gomez, C. and Au, Alexandra von and Wallwiener, Markus and Wolf, Sebastian Immanuel and Dikow, Nicola and Schaaf, Christian P. and Gutjahr, Ewgenija and Allg{\"a}uer, Michael and Stenzinger, Albrecht and Pf{\"u}tze, K. and Kirsten, R. and H{\"u}bschmann, Daniel and Sinn, Peter and J{\"a}ger, Dirk and Trumpp, Andreas and Schlenk, Richard Friedrich and H{\"o}fer, Thomas and Thewes, V. and Schneeweiss, Andreas and Lichter, Peter},
  title={Cognition},
  subtitle={a prospective precision oncology trial for patients with early breast cancer at high risk following neoadjuvant chemotherapy},
  year={2022},
  pages={1-12},
  language={eng},
  issn={2059-7029},
  volume={7},
  note={Gesehen am 23.01.2023},
  journal={ESMO open},
  doi={10.1016/j.esmoop.2022.100637},
}
@book{UBHD-69316526,
  author={Jungkunz, Martin and Cornelius, Kai and Schickhardt, Christoph and Dikow, Nicola and Winkler, Eva C. and Brors, Benedikt and Fr{\"o}hling, Stefan and Greulich-Bode, Karin Maria and Idler, Irina and Lichter, Peter and Milde, Till and Pfister, Stefan and Schaaf, Christian P. and Wiemann, Stefan},
  organization={Projektgruppe EURAT},
  title={Stellungnahme zur R{\"u}ckmeldung genetischer Zusatzbefunde Minderj{\"a}hriger},
  subtitle={Heidelberg, Oktober 2023},
  publisher={Sektion f{\"u}r Translationale Medizinethik},
  address={Heidelberg},
  year={2023},
  pages={130 Seiten},
  language={ger},
}
@article{UBHD-68587762,
  author={Rebbeck, Timothy and Hamann, Ute and Sutter, Christian and Bartram, Claus R. and Dikow, Nicola},
  title={Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer},
  year={2015},
  pages={1347-1361},
  language={eng},
  issn={1538-3598},
  volume={313},
  number={13},
  note={Gesehen am 17.06.2020},
  journal={The journal of the American Medical Association},
  doi={10.1001/jama.2014.5985},
}
@article{UBHD-68989671,
  author={Rippinger, Nathalie and Fischer, Christine and Sinn, Peter and Dikow, Nicola and Sutter, Christian and Rhiem, Kerstin E. M. and Grill, Sabine and Cremer, Friedrich Walter and Nguyen, Huu P. and Ditsch, Nina and Kast, Karin and Hettmer, Simone and Kratz, Christian Peter and Schott, Sarah},
  title={Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany},
  subtitle={a retrospective cohort study},
  year={2021},
  pages={7747-7758},
  language={eng},
  issn={2045-7634},
  volume={10},
  number={21},
  note={Gesehen am 28.11.2022},
  journal={Cancer medicine},
  doi={10.1002/cam4.4300},
  url={https://doi.org/10.1002/cam4.4300},
  library={UB},
}
@article{UBHD-68862887,
  author={Rippinger, Nathalie and Fischer, Christine and Haun, Markus W. and Rhiem, Kerstin E. M. and Grill, Sabine and Kiechle, Marion and Cremer, Friedrich Walter and Kast, Karin and Nguyen, Huu P. and Ditsch, Nina and Kratz, Christian Peter and Vogel, Julia and Speiser, Dorothee and Hettmer, Simone and Glimm, Hanno and Fr{\"o}hling, Stefan and J{\"a}ger, Dirk and Seitz, Stephan and Hahne, Andrea and Maatouk, Imad and Sutter, Christian and Schmutzler, Rita and Dikow, Nicola and Schott, Sarah},
  title={Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany},
  subtitle={a multicenter feasibility and acceptance survey},
  year={2020},
  pages={4032-4041},
  language={eng},
  issn={1097-0142},
  volume={126},
  number={17 vom: 1. Sept.},
  note={Online ver{\"o}ffentlicht Juni 18, 2020 ; Gesehen am 05.01.2022},
  journal={Cancer},
  doi={10.1002/cncr.33004},
  url={https://doi.org/10.1002/cncr.33004},
  library={UB},
}
@article{UBHD-68295289,
  author={Schott, Sarah and Vetter, Lisa Marie Andrea and Keller, Monika and Bruckner, Thomas and Golatta, Michael and Eismann, Sabine and Dikow, Nicola and Evers, Christina and Sohn, Christof and Heil, J{\"o}rg},
  title={Women at familial risk of breast cancer electing for prophylactic mastectomy},
  subtitle={frequencies, procedures, and decision-making characteristics},
  year={2017},
  pages={1451-1458},
  language={eng},
  issn={1432-0711},
  volume={295},
  number={6},
  note={Gesehen am 14.08.2018},
  journal={Archives of gynecology and obstetrics},
  doi={10.1007/s00404-017-4376-y},
}
@article{UBHD-68564563,
  author={Staufner, Christian and Leibner, Alexander and Moog, Ute and Diwan, Gaurav and Dikow, Nicola and Russell, Robert B. and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lenz, Dominic},
  title={Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients},
  year={2020},
  pages={610-621},
  language={eng},
  issn={1530-0366},
  volume={22},
  number={3},
  note={Published online: 25 November 2019 ; Gesehen am 15.04.2020},
  journal={Genetics in medicine},
  doi={10.1038/s41436-019-0698-4},
}
@article{UBHD-68576374,
  author={Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Lenz, Dominic and Hoffmann, Georg F.},
  title={Recurrent acute liver failure due to NBAS deficiency},
  subtitle={phenotypic spectrum, disease mechanisms, and therapeutic concepts},
  year={2016},
  pages={3-16},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={1},
  note={Published online: 5 November 2015 ; Gesehen am 13.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9896-7},
}
@article{UBHD-69053691,
  author={Sturm, Dominik and Capper, David and Andreiuolo, Felipe and Gessi, Marco and K{\"o}lsche, Christian and Reinhardt, Annekathrin and Sievers, Philipp and Wefers, Annika K. and Ebrahimi, Azadeh and Suwala, Abigail Kora and Gielen, Gerrit H. and Sill, Martin and Schrimpf, Daniel and Stichel, Damian and Hovestadt, Volker and Daenekas, Bjarne and Rode, Agata and Hamelmann, Stefan and Previti, A. Christopher and J{\"a}ger, Natalie and Buchhalter, Ivo and Blattner-Johnson, Mirjam and Jones, Barbara Christine and Warmuth-Metz, Monika and Bison, Brigitte and Grund, Kerstin and Sutter, Christian and Hirsch, Steffen and Dikow, Nicola and Witt, Olaf and Deimling, Andreas von and M{\"u}ller, Hermann L. and Pietsch, Torsten and Sahm, Felix and Pfister, Stefan and Jones, David T. W.},
  title={Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology},
  year={2023},
  pages={917-926},
  language={eng},
  issn={1546-170X},
  volume={29},
  number={4},
  note={Gesehen am 21.03.2023},
  journal={Nature medicine},
  doi={10.1038/s41591-023-02255-1},
}
@article{UBHD-67892584,
  author={Surowy, Harald and Schneeweiss, Andreas and Bugert, Peter and Sohn, Christof and Bartram, Claus R. and Burwinkel, Barbara and Sutter, Christian and Evers, Christina and Burgemeister, Anna Lena and G{\"o}hringer, Caroline and Dikow, Nicola and Heil, J{\"o}rg and Golatta, Michael and Schott, Sarah},
  title={Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance},
  year={2014},
  pages={451-460},
  language={eng},
  issn={1573-7217},
  volume={145},
  number={2},
  note={Gesehen am 27.10.2015},
  journal={Breast cancer research and treatment},
  doi={10.1007/s10549-014-2943-5},
}
@article{UBHD-68871516,
  author={Szklarczyk, Radek and Wanschers, Bas F. J. and Nijtmans, Leo G. and Rodenburg, Richard J. and Zschocke, Johannes and Dikow, Nicola and van den Brand, Mariël A. M. and Hendriks-Franssen, Marthe G. M. and Gilissen, Christian and Veltman, Joris A. and Nooteboom, Marco and Koopman, Werner J. H. and Willems, Peter H.G.M. and Smeitink, Jan A. M. and Huynen, Martijn A. and van den Heuvel, Lambertus P.},
  title={A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia},
  year={2013},
  pages={656-667},
  language={eng},
  issn={1460-2083},
  volume={22},
  number={4},
  note={Advance access published on November 2, 2012 ; Gesehen am 27.01.2022},
  journal={Human molecular genetics},
  doi={10.1093/hmg/dds473},
}
@article{UBHD-68768470,
  author={Tilburg, Cornelis M. van and Pfaff, Elke and Pajtler, Kristian Wilfried and Langenberg, Karin and Fiesel, Petra and Jones, Barbara Christine and Balasubramanian, Gnana Prakash and Stark, Sebastian and Johann, Pascal-David and Blattner-Johnson, Mirjam and Schramm, Kathrin and Dikow, Nicola and Hirsch, Steffen and Sutter, Christian and Grund, Kerstin and Stackelberg, Arend von and Kulozik, Andreas and Lissat, Andrej and Borkhardt, Arndt and Meisel, Roland and Reinhardt, Dirk and Klusmann, Jan-Henning and Fleischhack, Gudrun and Tippelt, Stephan and Schweinitz, Dietrich von and Schmid, Irene and Kramm, Christof M. and Bueren, André von and Calaminus, Gabriele and Vorwerk, Peter and Graf, Norbert and Westermann, Frank and Fischer, Matthias and Eggert, Angelika and Burkhardt, Birgit and W{\"o}ßmann, Wilhelm and Nathrath, Michaela and Hecker-Nolting, Stefanie and Fr{\"u}hwald, Michael and Schneider, Dominik T. and Brecht, Ines B. and Ketteler, Petra and Fulda, Simone and Koscielniak, Ewa and Meister, Michael and Scheer, Monika and Hettmer, Simone and Schwab, Matthias and Tremmel, Roman and Øra, Ingrid and Hutter, Caroline and Gerber, Nicolas U. and Lohi, Olli and Kazanowska, Bernarda and Kattamis, Antonis and Filippidou, Maria and Goemans, Bianca and Zwaan, C. Michel and Milde, Till and J{\"a}ger, Natalie and Wolf, Stephan and Reuss, David and Sahm, Felix and Deimling, Andreas von and Dirksen, Uta and Freitag, Angelika and Witt, Ruth and Lichter, Peter and Kopp-Schneider, Annette and Jones, David T. W. and Molenaar, Jan J. and Capper, David and Pfister, Stefan and Witt, Olaf},
  title={The pediatric precision oncology INFORM registry},
  subtitle={clinical outcome and benefit for patients with very high-evidence targets},
  year={2021},
  pages={2764-2779},
  language={eng},
  issn={2159-8290},
  volume={11},
  number={11},
  note={Gesehen am 30.07.2021},
  journal={Cancer discovery},
  doi={10.1158/2159-8290.CD-21-0094},
}
@article{UBHD-68611656,
  author={Tokita, Mari J. and Dikow, Nicola and Maas, Bianca},
  title={Five children with deletions of 1p34.3 encompassing AGO1 and AGO3},
  year={2015},
  pages={761-765},
  language={eng},
  issn={1476-5438},
  volume={23},
  number={6},
  note={Published: 01 October 2014 ; Im Text sind AGO1 und AGO3 schr{\"a}g gestellt ; Gesehen am 02.07.2020},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2014.202},
}
@article{UBHD-68468261,
  author={Vetter, Lisa Marie Andrea and Keller, Monika and Bruckner, Thomas and Golatta, Michael and Eismann, Sabine and Evers, Christina and Dikow, Nicola and Sohn, Christof and Heil, J{\"o}rg and Schott, Sarah},
  title={Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening},
  subtitle={a monocenter study in Germany},
  year={2016},
  pages={289-299},
  language={eng},
  issn={1573-7217},
  volume={156},
  number={2},
  note={Gesehen am 16.12.2019},
  journal={Breast cancer research and treatment},
  doi={10.1007/s10549-016-3748-5},
}