1. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. Issue 4 (2nd February 2015) Authors: Jhuraney, Ankita; Velkova, Aneliya; Johnson, Randall C; Kessing, Bailey; Carvalho, Renato S; Whiley, Phillip; Spurdle, Amanda B; Vreeswijk, Maaike P G; Caputo, Sandrine M; Millot, Gael A; Vega, Ana; Coquelle, Nicolas; Galli, Alvaro; Eccles, Diana; Blok, Marinus J; Pal, Tuya; van der Luijt, Rob B;... Journal: Journal of medical genetics Issue: Volume 52:Issue 4(2015) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo recurrent germline mutation of theBRCA2 gene in a patient with early onset breast cancer. Issue 2 (1st February 2001) Authors: van der Luijt, Rob B; van Zon, Patrick H A; Jansen, Rumó P M; van der Sijs-Bos, Carla J M; Wárlám-Rodenhuis, Carla C; Ausems, Margreet G E M Journal: Journal of medical genetics Issue: Volume 38:Issue 2(2001) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome. Issue 2 (February 2019) Authors: Beijers, Hanneke J B H; Stikkelbroeck, Nike M L; Mensenkamp, Arjen R; Pfundt, Rolph; van der Luijt, Rob B; Timmers, Henri J L M; Hermus, Ad R M M; Kempers, Marlies J E Journal: European journal of endocrinology Issue: Volume 180:Issue 2(2019) Page Start: K15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. Issue 1 (10th May 2017) Authors: Moghadasi, Setareh; Meeks, Huong D; Vreeswijk, Maaike PG; Janssen, Linda AM; Borg, Åke; Ehrencrona, Hans; Paulsson-Karlsson, Ylva; Wappenschmidt, Barbara; Engel, Christoph; Gehrig, Andrea; Arnold, Norbert; Hansen, Thomas Van Overeem; Thomassen, Mads; Jensen, Uffe Birk; Kruse, Torben A; Ejlertsen,... Journal: Journal of medical genetics Issue: Volume 55:Issue 1(2018) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗