1. 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) ↗
2. Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. (October 2016) Authors: Hastings, Robert; de Villiers, Carin P.; Hooper, Charlotte; Ormondroyd, Liz; Pagnamenta, Alistair; Lise, Stefano; Salatino, Silvia; Knight, Samantha J.L.; Taylor, Jenny C.; Thomson, Kate L.; Arnold, Linda; Chatziefthimiou, Spyros D.; Konarev, Petr V.; Wilmanns, Matthias; Ehler, Elisabeth; Ghislen... Journal: Circulation Issue: Volume 9:Number 5(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Issue 5 (4th February 2020) Authors: Mazzarotto, Francesco; Tayal, Upasana; Buchan, Rachel J.; Midwinter, William; Wilk, Alicja; Whiffin, Nicola; Govind, Risha; Mazaika, Erica; de Marvao, Antonio; Dawes, Timothy J.W.; Felkin, Leanne E.; Ahmad, Mian; Theotokis, Pantazis I.; Edwards, Elizabeth; Ing, Alexander Y.; Thomson, Kate L.; Cha... Journal: Circulation Issue: Volume 141:Issue 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. (June 2020) Authors: Harper, Andrew R.; Bowman, Michael; Hayesmoore, Jesse B.G.; Sage, Helen; Salatino, Silvia; Blair, Edward; Campbell, Carolyn; Currie, Bethany; Goel, Anuj; McGuire, Karen; Ormondroyd, Elizabeth; Sergeant, Kate; Waring, Adam; Woodley, Jessica; Kramer, Christopher M.; Neubauer, Stefan; Farrall, Marti... Journal: Circulation Issue: Volume 13:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing. (28th November 2022) Authors: Thomson, Kate L.; Ormondroyd, Elizabeth Journal: Circulation Issue: Volume 15:Number 6(2022) Page Start: e003958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗