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. Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma. (13th June 2018) Authors: Bah, Ismaël; Fahiminiya, Somayyeh; Bégin, Louis R; Hamel, Nancy; D'Agostino, Maria D; Tanguay, Simon; Foulkes, William D Journal: Journal of pathology Issue: Volume 4:Number 3(2018) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. (January 2019) Authors: Gayden, Tenzin; Sepulveda, Fernando; Khuong-Quang, Dong-Anh; Pratt, Jonathan; Valera, Elvis; Garrigue, Alexandrine; Kelso, Susan; Sicheri, Frank; Mikael, Leonie; Hamel, Nancy; Bajic, Andrea; Dali, Rola; Deshmukh, Shriya; Dervovic, Dzana; Schramek, Daniel; Guerin, Frédéric; Taipale, Mikko; Nikbakh... Journal: Nature genetics Issue: Volume 51:Number 1(2019) Page Start: 196 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository. Issue 6 (19th April 2021) Authors: Mighton, Chloe; Smith, Amanda C; Mayers, Justin; Tomaszewski, Robert; Taylor, Sherryl; Hume, Stacey; Agatep, Ron; Spriggs, Elizabeth; Feilotter, Harriet E; Semenuk, Laura; Wong, Henry; Lazo de la Vega, Lorena; Marshall, Christian R; Axford, Michelle M; Silver, Talia; Charames, George S; Di Gioacc... Other Names: author non-byline.; Agatep Ron author non-byline.; Ainsworth Peter author non-byline.; Akbari Mohammad R. author non-byline.; Aronson Melyssa author non-byline.; Basran Raveen author non-byline.; Blavier Andre author non-byline.; Blumenthal Andrea author non-byline.; Bombard Yvonne author non-by... Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 571 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial rhabdoid tumour 'avant la lettre'—from pathology review to exome sequencing and back again. Issue 1 (6th August 2013) Authors: Witkowski, Leora; Lalonde, Emilie; Zhang, Jian; Albrecht, Steffen; Hamel, Nancy; Cavallone, Luca; May, Sandra Thompson; Nicholson, James C; Coleman, Nicholas; Murray, Matthew J; Tauber, Peter F; Huntsman, David G; Schönberger, Stefan; Yandell, David; Hasselblatt, Martin; Tischkowitz, Marc D; Maje... Journal: Journal of pathology Issue: Volume 231:Issue 1(2013) Page Start: 35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. Issue 7 (20th June 2012) Authors: Sabbaghian, Nelly; Hamel, Nancy; Srivastava, Archana; Albrecht, Steffen; Priest, John R; Foulkes, William D Journal: Journal of medical genetics Issue: Volume 49:Issue 7(2012) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. (December 2018) Authors: Gayden, Tenzin; Sepulveda, Fernando; Khuong-Quang, Dong-Anh; Pratt, Jonathan; Valera, Elvis; Garrigue, Alexandrine; Kelso, Susan; Sicheri, Frank; Mikael, Leonie; Hamel, Nancy; Bajic, Andrea; Dali, Rola; Deshmukh, Shriya; Dervovic, Dzana; Schramek, Daniel; Guerin, Frédéric; Taipale, Mikko; Nikbakh... Journal: Nature genetics Issue: Volume 50:Number 12(2018) Page Start: 1650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Germ‐line and somatic DICER1 mutations in a pleuropulmonary blastoma. Issue 12 (19th July 2013) Authors: de Kock, Leanne; Plourde, François; Carter, Melissa T.; Hamel, Nancy; Srivastava, Archana; Meyn, M. Stephen; Arseneau, Jocelyne; Soglio, Dorothée Bouron‐Dal; Foulkes, William D. Journal: Pediatric blood & cancer Issue: Volume 60:Issue 12(2013:Dec.) Page Start: 2091 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres. Issue 8 (August 2018) Authors: Neuwirth, Christoph; Braun, Nathalie; Claeys, Kristl G.; Bucelli, Robert; Fournier, Christina; Bromberg, Mark; Petri, Susanne; Goedee, Stephan; Lenglet, Timothée; Leppanen, Ron; Canosa, Antonio; Goodman, Ira; Al-Lozi, Muhammad; Ohkubo, Takuya; Hübers, Annemarie; Atassi, Nazem; Abrahao, Agessandro... Journal: Clinical neurophysiology Issue: Volume 129:Issue 8(2018:Aug.) Page Start: 1756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Long-term tumour dormancy in a BRCA1 heterozygote. Issue 1 (17th January 2022) Authors: Amuzu, Setor; Fu, Lili; Demko, Nadine; Rivera, Barbara; Domecq, Celine; de Kock, Leanne; Hamel, Nancy; Gilbert, Lucy; Polak, Paz; Ragoussis, Jiannis; Foulkes, William D Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗