1. Building a precision medicine infrastructure at a national level: The Swedish experience. (27th February 2023) Authors: Edsjö, Anders; Lindstrand, Anna; Gisselsson, David; Mölling, Paula; Friedman, Mikaela; Cavelier, Lucia; Johansson, Maria; Ehrencrona, Hans; Fagerqvist, Therese; Strid, Tobias; Lovmar, Lovisa; Jacobsson, Bo; Johansson, Åsa; Engstrand, Lars; Wheelock, Craig E.; Sikora, Per; Wirta, Valtteri; Fioreto... Journal: Cambridge prisms Issue: Volume 1(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Dasatinib induces fast and deep responses in newly diagnosed chronic myeloid leukaemia patients in chronic phase: clinical results from a randomised phase‐2 study (NordCML006). (13th September 2014) Authors: Hjorth‐Hansen, Henrik; Stenke, Leif; Söderlund, Stina; Dreimane, Arta; Ehrencrona, Hans; Gedde‐Dahl, Tobias; Gjertsen, Bjørn Tore; Höglund, Martin; Koskenvesa, Perttu; Lotfi, Kourosh; Majeed, Waleed; Markevärn, Berit; Ohm, Lotta; Olsson‐Strömberg, Ulla; Remes, Kari; Suominen, Merja; Simonsson, Be... Journal: European journal of haematology Issue: Volume 94:Number 3(2015:Mar.) Page Start: 243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Discontinuation of tyrosine kinase inhibitor therapy in chronic myeloid leukaemia (EURO-SKI): a prespecified interim analysis of a prospective, multicentre, non-randomised, trial. Issue 6 (June 2018) Authors: Saussele, Susanne; Richter, Johan; Guilhot, Joelle; Gruber, Franz X; Hjorth-Hansen, Henrik; Almeida, Antonio; Janssen, Jeroen J W M; Mayer, Jiri; Koskenvesa, Perttu; Panayiotidis, Panayiotis; Olsson-Strömberg, Ulla; Martinez-Lopez, Joaquin; Rousselot, Philippe; Vestergaard, Hanne; Ehrencrona, Han... Journal: Lancet oncology Issue: Volume 19:Issue 6(2018) Page Start: 747 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation. (August 2022) Authors: Elander, Johanna; Ullmark, Tove; Ehrencrona, Hans; Jonson, Tord; Piccinelli, Paul; Samuelsson, Sofie; Löwgren, Karolina; Falkenius-Schmidt, Karolina; Ehinger, Johannes; Stenfeldt, Karin; Värendh, Maria Journal: International journal of pediatric otorhinolaryngology Issue: Volume 159(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. Issue 4 (6th May 2014) Authors: Dominguez‐Valentin, Mev; Drost, Mark; Therkildsen, Christina; Rambech, Eva; Ehrencrona, Hans; Angleys, Maria; Lau Hansen, Thomas; de Wind, Niels; Nilbert, Mef; Juel Rasmussen, Lene Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 4(2014:Jul.) Page Start: 352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018) Authors: Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. 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) ↗
10. Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany. (September 2022) Authors: Stenzinger, Albrecht; Edsjö, Anders; Ploeger, Carolin; Friedman, Mikaela; Fröhling, Stefan; Wirta, Valtteri; Seufferlein, Thomas; Botling, Johan; Duyster, Justus; Akhras, Michael; Thimme, Robert; Fioretos, Thoas; Bitzer, Michael; Cavelier, Lucia; Schirmacher, Peter; Malek, Nisar; Rosenquist, Rich... Journal: Seminars in cancer biology Issue: Volume 84(2022) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗