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Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations

Cherith Somerville1,2, Kelsey Kalbfleisch1,2, Roozbeh Manshaei1,2, Qiliang Ding1,2, John B.A. Okello1,2,3, Rachel Silver4, David Chitayat2,4, Varsha Thakur5, Olivier Villemain5,6,7, Rebekah Jobling1,2,8,*

1 Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, University of Toronto, Toronto, Canada
2 Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada
3 MIT Sloan School of Management, Massachusetts Institute of Technology, Cambridge, USA
4 The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada
5 Department of Paediatrics, Division of Cardiology, The Hospital for Sick Children, University of Toronto, Toronto, Canada
6 Department of Medical Biophysics, University of Toronto, Toronto, Canada
7 Department of Paediatrics, Translations Medicine Department, SickKids Research Institute, University of Toronto, Toronto, Canada
8 Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, Canada

* Corresponding Author: Rebekah Jobling. Email: email

TSP_CHD_23042.pdf

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