1. Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification. Issue 11 (2nd June 2020) Authors: Quiat, Daniel; Witkowski, Leora; Zouk, Hana; Daly, Kevin P.; Roberts, Amy E. Journal: Journal of the American Heart Association Issue: Volume 9:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Issue 9 (24th June 2020) Authors: Hawley, Megan H.; Almontashiri, Naif; Biesecker, Leslie G.; Berger, Natalie; Chung, Wendy K.; Garcia, John; Grebe, Theresa A.; Kelly, Melissa A.; Lebo, Matthew S.; Macaya, Daniela; Mei, Hui; Platt, Julia; Richard, Gabi; Ryan, Ashley; Thomson, Kate L.; Vatta, Matteo; Walsh, Roddy; Ware, James S.; ... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1577 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus. (February 2014) Authors: Zouk, Hana; Marchand, Luc; Li, Quan; Polychronakos, Constantin Journal: Autoimmunity Issue: Volume 47:Number 1(2014) Page Start: 40 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. (22nd February 2023) Authors: Dikilitas, Ozan; Sherafati, Alborz; Saadatagah, Seyedmohammad; Satterfield, Benjamin A.; Kochan, David C.; Anderson, Katherine C.; Chung, Wendy K.; Hebbring, Scott J.; Salvati, Zachary M.; Sharp, Richard R.; Sturm, Amy C.; Gibbs, Richard A.; Rowley, Robb; Venner, Eric; Linder, Jodell E.; Jones, L... Journal: Circulation Issue: Volume 16:Number 2(2023) Page Start: e003816 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗