1. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. Issue 5 (17th February 2015) Authors: Li, Lili; Hamel, Nancy; Baker, Kristi; McGuffin, Michael J; Couillard, Martin; Gologan, Adrian; Marcus, Victoria A; Chodirker, Bernard; Chudley, Albert; Stefanovici, Camelia; Durandy, Anne; Hegele, Robert A; Feng, Bing-Jian; Goldgar, David E; Zhu, Jun; De Rosa, Marina; Gruber, Stephen B; Wimmer, ... Journal: Journal of medical genetics Issue: Volume 52:Issue 5(2015) Page Start: 348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. (7th August 2018) Authors: Shimelis, Hermela; LaDuca, Holly; Hu, Chunling; Hart, Steven N; Na, Jie; Thomas, Abigail; Akinhanmi, Margaret; Moore, Raymond M; Brauch, Hiltrud; Cox, Angela; Eccles, Diana M; Ewart-Toland, Amanda; Fasching, Peter A; Fostira, Florentia; Garber, Judy; Godwin, Andrew K; Konstantopoulou, Irene; Neva... Journal: Journal of the National Cancer Institute Issue: Volume 110:Number 8(2018) Page Start: 855 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗