Gabrielle Persad

ORCID: 0000-0003-4680-527X
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About
Contact & Profiles
Research Areas
  • Cardiomyopathy and Myosin Studies
  • RNA and protein synthesis mechanisms
  • RNA modifications and cancer

Hospital for Sick Children
2022

University of Toronto
2022

Robert Lesurf Abdelrahman Said Oyediran Akinrinade Jeroen Breckpot Kathleen Delfosse and 95 more Ting Liu Roderick Yao Gabrielle Persad Fintan McKenna Ramil R. Noche Winona Oliveros Kaia Mattioli Shreya Shah Anastasia Miron Qian Yang Guoliang Meng Michelle Chan‐Seng‐Yue Wilson W. L. Sung Bhooma Thiruvahindrapuram Jane Lougheed Erwin Oechslin Tapas Mondal Lynn Bergin John Smythe Shashank Jayappa Vinay J. Rao Jayaprakash Shenthar Perundurai S. Dhandapany Christopher Semsarian Robert G. Weintraub Richard D. Bagnall Jodie Ingles John C. Ambrose P. Arumugam E. L. Baple Marta Bleda F. Boardman-Pretty J. M. Boissiere C. R. Boustred Helen Brittain Mark J. Caulfield G. C. Chan C. E. H. Craig Louise C. Daugherty Anna de Burca A. Devereau Greg Elgar Rebecca E. Foulger Tom Fowler Pedro Furió‐Tarí Adam Giess J.M. Hackett Dina Halai Angela Hamblin Shirley Henderson John E. Holman Tim Hubbard Kristina Ibáñez R. Jackson J. Louise Jones Dalia Kasperavičiūtė Melis Kayikci Athanasios Kousathanas L. Lahnstein Katy L. Lawson S. E. A. Leigh I. U. S. Leong Fabrice Lopez F. Maleady-Crowe Joanne Mason Ellen M. McDonagh Loukas Moutsianas Michael Mueller Nirupa Murugaesu Anna C. Need Christopher A. Odhams Andrea Orioli Christine Patch D. Perez-Gil Mariana Buongermino Pereira Dimitris Polychronopoulos J. Pullinger T. Rahim Augusto Rendon Pablo Riesgo-Ferreiro T. Rogers Mina Ryten K. Savage K. Sawant Richard H. Scott Afshan Siddiq A. Sieghart Damian Smedley K. R. Smith Samuel C. Smith Alona Sosinsky Will Spooner Hallam Stevens A. Stuckey Razia Sultana Mohammad

Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on clinical gene panel testing. The contribution variants in non-coding DNA elements that result cryptic splicing and regulate expression has not been explored. We analyzed whole-genome sequencing (WGS) data discovery cohort 209 pediatric CMP patients 1953 independent replication genomes exomes. searched for protein-coding variants, predicted to affect the function or genes. Thirty-nine percent harbored...

10.1038/s41525-022-00288-y article EN cc-by npj Genomic Medicine 2022-03-14
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