1. A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy. Issue 11 (5th September 2019) Authors: Roggenbuck, Jennifer; Rich, Kelly; Morales, Ana; Tan, Christopher A.; Eck, Douglas; King, Wendy; Vatta, Matteo; Winder, Thomas; Elsheikh, Bakri; Hershberger, Ray E.; Kissel, John T. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 11(2019) 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. Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis. Issue 11 (2nd July 2018) Authors: Moe, Sharon M; Long, Jin; Schwantes-An, Tae-Hwi Linus; Decker, Brian S; Wetherill, Leah; Edenberg, Howard J; Xuei, Xiaoling; Vatta, Matteo; Foroud, Tatiana M; Chertow, Glenn M Journal: Nephrology dialysis transplantation Issue: Volume 34:Issue 11(2019) Page Start: 1924 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. (6th June 2019) Authors: Crotti, Lia; Spazzolini, Carla; Tester, David J; Ghidoni, Alice; Baruteau, Alban-Elouen; Beckmann, Britt-Maria; Behr, Elijah R; Bennett, Jeffrey S; Bezzina, Connie R; Bhuiyan, Zahurul A; Celiker, Alpay; Cerrone, Marina; Dagradi, Federica; De Ferrari, Gaetano M; Etheridge, Susan P; Fatah, Meena; G... Journal: European heart journal Issue: Volume 40:Number 35(2019) Page Start: 2964 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy. (October 2019) Authors: Kean, Adam C.; Helm, Benjamin M.; Vatta, Matteo; Ayers, Mark D.; Parent, John J.; Darragh, Robert K. Journal: Cardiology in the young Issue: Volume 29:Number 10(2019) Page Start: 1257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dysfunction in the βII Spectrin–Dependent Cytoskeleton Underlies Human Arrhythmia. Issue 8 (24th February 2015) Authors: Smith, Sakima A.; Sturm, Amy C.; Curran, Jerry; Kline, Crystal F.; Little, Sean C.; Bonilla, Ingrid M.; Long, Victor P.; Makara, Michael; Polina, Iuliia; Hughes, Langston D.; Webb, Tyler R.; Wei, Zhiyi; Wright, Patrick; Voigt, Niels; Bhakta, Deepak; Spoonamore, Katherine G.; Zhang, Chuansheng; We... Journal: Circulation Issue: Volume 131:Issue 8(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Dysfunction in the βII Spectrin–Dependent Cytoskeleton Underlies Human Arrhythmia. Issue 8 (24th February 2015) Authors: Smith, Sakima A.; Sturm, Amy C.; Curran, Jerry; Kline, Crystal F.; Little, Sean C.; Bonilla, Ingrid M.; Long, Victor P.; Makara, Michael; Polina, Iuliia; Hughes, Langston D.; Webb, Tyler R.; Wei, Zhiyi; Wright, Patrick; Voigt, Niels; Bhakta, Deepak; Spoonamore, Katherine G.; Zhang, Chuansheng; We... Journal: Circulation Issue: Volume 131:Issue 8(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Issue 12 (16th August 2013) Authors: Vatta, Matteo; Niu, Zhiyv; Lupski, James R.; Putnam, Philip; Spoonamore, Katherine G.; Fang, Ping; Eng, Christine M.; Willis, Alecia S. Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Issue 12 (16th August 2013) Authors: Vatta, Matteo; Niu, Zhiyv; Lupski, James R.; Putnam, Philip; Spoonamore, Katherine G.; Fang, Ping; Eng, Christine M.; Willis, Alecia S. Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular Diagnosis of Myotonic Dystrophy. (13th February 2018) Authors: Chakraborty, Sujata; Vatta, Matteo; Bachinski, Linda L.; Krahe, Ralf; Dlouhy, Stephen; Bai, Shaochun Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R. Journal: Current protocols in human genetics Issue: Volume 91(2016) Page Start: 9.29.1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗