1. BS30 Crucial functions of alpha-actinin2 in the embryonic heart. (6th June 2022) Authors: Gehmlich, Katja; Jiang, Austin (He); Wadmore, Kirsty; Hooper, Charlotte; Ehler, Elisabeth; Broadway-Stringer, Sophie; Kalisch-Smith, Jacinta; Sparrow, Duncan; Davies, Benjamin; Watkins, Hugh Journal: Heart Issue: Volume 108(2022)Supplement 1 Page Start: A163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Changes in the cardiac metabolome caused by perhexiline treatment in a mouse model of hypertrophic cardiomyopathy. Issue 2 (1st December 2014) Authors: Gehmlich, Katja; Dodd, Michael S.; William Allwood, J.; Kelly, Matthew; Bellahcene, Mohamed; Lad, Heena V.; Stockenhuber, Alexander; Hooper, Charlotte; Ashrafian, Houman; Redwood, Charles S.; Carrier, Lucie; Dunn, Warwick B. Journal: Molecular bioSystems Issue: Volume 11:Issue 2(2015:Feb.) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Functional analysis of a FLNC missense variant associated with hypertrophic cardiomyopathy. (31st December 2022) Authors: Azad, Amar J.; Jiang, He; Hooper, Charlotte; Broadway-Stringer, Sophie; Steeples, Violetta; Davies, Benjamin; Watkins, Hugh; Gehmlich, Katja Journal: Journal of molecular and cellular cardiology Issue: Volume 173(2022)Supplement Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. (August 2018) Authors: Ehsan, Mehroz; Kelly, Matthew; Hooper, Charlotte; Yavari, Arash; Beglov, Julia; Bellahcene, Mohamed; Ghataorhe, Kirandeep; Poloni, Giulia; Goel, Anuj; Kyriakou, Theodosios; Fleischanderl, Karin; Ehler, Elisabeth; Makeyev, Eugene; Lange, Stephan; Ashrafian, Houman; Redwood, Charles; Davies, Benjam... Journal: Journal of molecular and cellular cardiology Issue: Volume 121(2018) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Small change, big impact: A Z-disc missense genetic variant causes dramatic morphological changes in the embryonic heart. (31st December 2022) Authors: Jiang, He; Kalisch-Smith, Jacinta; Sparrow, Duncan; Broadway-Stringer, Sophie; Wadmore, Kirsty; Hooper, Charlotte; Ehler, Elisabeth; Gautel, Mathias; Davies, Benjamin; Watkins, Hugh; Gehmlich, Katja Journal: Journal of molecular and cellular cardiology Issue: Volume 173(2022)Supplement Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗