1. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. (28th July 2021) Authors: Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; ... Journal: Journal of the National Cancer Institute Issue: Volume 114:Number 1(2022) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia. Issue 4 (21st July 2020) Authors: Niemann, Jan Hendrik; Du, Chen; Morlot, Susanne; Schmidt, Gunnar; Auber, Bernd; Kaune, Beate; Göhring, Gudrun; Ripperger, Tim; Schlegelberger, Brigitte; Hofmann, Winfried; Smol, Thomas; Ait‐Yahya, Emilie; Raimbault, Anna; Lambilliotte, Anne; Petit, Florence; Steinemann, Doris Journal: Clinical genetics Issue: Volume 98:Issue 4(2020) Page Start: 374 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing. Issue 9 (13th November 2019) Authors: van Luttikhuizen, Jana Lisa; Bublitz, Janin; Schubert, Stephanie; Schmidt, Gunnar; Hofmann, Winfried; Morlot, Susanne; Buurman, Reena; Auber, Bernd; Schlegelberger, Brigitte; Steinemann, Doris Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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. (9th March 2018) Authors: Hauke, Jan; Horvath, Judit; Groß, Eva; Gehrig, Andrea; Honisch, Ellen; Hackmann, Karl; Schmidt, Gunnar; Arnold, Norbert; Faust, Ulrike; Sutter, Christian; Hentschel, Julia; Wang‐Gohrke, Shan; Smogavec, Mateja; Weber, Bernhard H. F.; Weber‐Lassalle, Nana; Weber‐Lassalle, Konstantin; Borde, Julika;... Journal: Cancer medicine Issue: Volume 7:Number 4(2018:Apr.) Page Start: 1349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. INNV-06. TREATMENT RESPONSE TO BEVACIZUMAB OVER TWO YEARS IN A PATIENT WITH GENETICALLY PROVEN SOMATIC NEUROFIBROMATOSIS TYPE 2 MOSAICISM. (11th November 2019) Authors: Basenach, Elena; Förster, Alisa; Raab, Peter; Alzein, Samer; Schmidt, Gunnar; Krauss, Joachim; Heidenreich, Fedor; Hartmann, Christian; Auber, Bernd; Wiese, Bettina; Weber, Ruthild Journal: Neuro-oncology Issue: Volume 21(2019)Supplement 6 Page Start: vi131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Interstitial lung disease in infancy and early childhood: a clinicopathological primer. (9th March 2022) Authors: Laenger, Florian Peter; Schwerk, Nicolaus; Dingemann, Jens; Welte, Tobias; Auber, Bernd; Verleden, Stijn; Ackermann, Maximilian; Mentzer, Steven J.; Griese, Matthias; Jonigk, Danny Journal: European respiratory review Issue: Volume 31:Number 163(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?. Issue 6 (25th April 2018) Authors: Behnert, Astrid; Auber, Bernd; Steinemann, Doris; Frühwald, Michael C.; Huisinga, Carolin; Hussein, Kais; Kratz, Christian; Ripperger, Tim Journal: American journal of medical genetics Issue: Volume 176:Issue 6(2018) Page Start: 1449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019) Authors: Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. Issue 7 (6th May 2019) Authors: Golas, Monika M.; Auber, Bernd; Ripperger, Tim; Pabst, Brigitte; Schmidt, Gunnar; Morlot, Michel; Diebold, Uta; Steinemann, Doris; Schlegelberger, Brigitte; Morlot, Susanne Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D. (28th February 2020) Authors: Yang, Xin; Song, Honglin; Leslie, Goska; Engel, Christoph; Hahnen, Eric; Auber, Bernd; Horváth, Judit; Kast, Karin; Niederacher, Dieter; Turnbull, Clare; Houlston, Richard; Hanson, Helen; Loveday, Chey; Dolinsky, Jill S; LaDuca, Holly; Ramus, Susan J; Menon, Usha; Rosenthal, Adam N; Jacobs, Ian; ... Journal: Journal of the National Cancer Institute Issue: Volume 112:Number 12(2020) Page Start: 1242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗