1. 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) ↗
2. Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory. Issue 6 (21st September 2018) Authors: Nfonsam, Landry; Ordorica, Shelley; Ghani, Mahdi; Potter, Ryan; Schaffer, Audrey; Daoud, Hussein; Vasli, Nasim; Chisholm, Caitlin; Sinclair-Bourque, Elizabeth; McGowan-Jordan, Jean; Smith, Amanda C; Jarinova, Olga; Bronicki, Lucas Journal: Journal of medical genetics Issue: Volume 56:Issue 6(2019) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. Issue 7 (4th April 2014) Authors: Smith, Amanda C; Mears, Alan J; Bunker, Ryan; Ahmed, Afsana; MacKenzie, Malcolm; Schwartzentruber, Jeremy A; Beaulieu, Chandree L; Ferretti, Emanuela; Majewski, Jacek; Bulman, Dennis E; Celik, Fatma Cakmak; Boycott, Kym M; Graham, Gail E Journal: Journal of medical genetics Issue: Volume 51:Issue 7(2014) Page Start: 470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗