J
Jonathan B. Kronick
Researcher at University of Toronto
Publications - 28
Citations - 1350
Jonathan B. Kronick is an academic researcher from University of Toronto. The author has contributed to research in topics: Health care & Population. The author has an hindex of 13, co-authored 28 publications receiving 1048 citations. Previous affiliations of Jonathan B. Kronick include Hospital for Sick Children & Dalhousie University.
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Journal ArticleDOI
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C. Lionel,Gregory Costain,Nasim Monfared,Susan Walker,Miriam S. Reuter,S. Mohsen Hosseini,Bhooma Thiruvahindrapuram,Daniele Merico,Rebekah Jobling,Thomas Nalpathamkalam,Giovanna Pellecchia,Wilson W L Sung,Zhuozhi Wang,Peter Bikangaga,Cyrus Boelman,Melissa T. Carter,Dawn Cordeiro,Cheryl Cytrynbaum,Sharon D. Dell,Priya Dhir,James J. Dowling,Elise Heon,Stacy Hewson,Linda T. Hiraki,Michal Inbar-Feigenberg,Regan Klatt,Regan Klatt,Jonathan B. Kronick,Ronald M. Laxer,Christoph Licht,Heather MacDonald,Heather MacDonald,Saadet Mercimek-Andrews,Roberto Mendoza-Londono,Tino D. Piscione,Rayfel Schneider,Andreas Schulze,Earl D. Silverman,Komudi Siriwardena,O. Carter Snead,Neal Sondheimer,Joanne Sutherland,Ajoy Vincent,Jonathan D. Wasserman,Rosanna Weksberg,Cheryl Shuman,Chris Carew,Michael J. Szego,Robin Z. Hayeems,Raveen K. Basran,Dimitri J. Stavropoulos,Peter N. Ray,Sarah Bowdin,M. Stephen Meyn,Ronald D. Cohn,Stephen W. Scherer,Christian R. Marshall +56 more
TL;DR: WGS as a primary clinical test provided a higher diagnostic yield than conventional genetic testing in a clinically heterogeneous cohort and confirmed recent disease associations with the genes PIGG, RNU4ATAC, TRIO, and UNC13A.
Journal ArticleDOI
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Dimitri J. Stavropoulos,Daniele Merico,Rebekah Jobling,Sarah Bowdin,Nasim Monfared,Bhooma Thiruvahindrapuram,Thomas Nalpathamkalam,Giovanna Pellecchia,Ryan K. C. Yuen,Michael J. Szego,Michael J. Szego,Robin Z. Hayeems,Randi Zlotnik Shaul,Michael Brudno,Marta Girdea,Brendan J. Frey,Babak Alipanahi,Sohnee Ahmed,Riyana Babul-Hirji,Ramses Badilla Porras,Melissa T. Carter,Lauren Chad,Ayeshah Chaudhry,David Chitayat,David Chitayat,Soghra Jougheh Doust,Cheryl Cytrynbaum,Lucie Dupuis,Resham Ejaz,Leona Fishman,Andrea Guerin,Bita Hashemi,Mayada Helal,Stacy Hewson,Michal Inbar-Feigenberg,Peter Kannu,Natalya Karp,Raymond H. Kim,Jonathan B. Kronick,Eriskay Liston,Heather MacDonald,Saadet Mercimek-Mahmutoglu,Roberto Mendoza-Londono,Enas Nasr,Graeme A. M. Nimmo,Nicole Parkinson,Nada Quercia,Julian Raiman,Maian Roifman,Andreas Schulze,Andrea Shugar,Cheryl Shuman,Pierre Sinajon,Komudi Siriwardena,Rosanna Weksberg,Grace Yoon,Chris Carew,Raith Erickson,Richard A. Leach,Robert Klein,Peter N. Ray,M. Stephen Meyn,Stephen W. Scherer,Ronald D. Cohn,Christian R. Marshall +64 more
TL;DR: Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and potentially reduce the time required to reach a genetic diagnosis.
Journal ArticleDOI
Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I
Jessica Nouws,Leo G.J. Nijtmans,Sander M. Houten,Mariël A.M. van den Brand,Martijn A. Huynen,Hanka Venselaar,Saskia J.G. Hoefs,Jolein Gloerich,Jonathan B. Kronick,Timothy Hutchin,Peter H.G.M. Willems,Richard J. Rodenburg,Ronald J.A. Wanders,Lambert P. van den Heuvel,Jan A.M. Smeitink,Rutger O. Vogel +15 more
TL;DR: The results demonstrate that two closely related metabolic enzymes have diverged at the root of the vertebrate lineage to function in two separate mitochondrial metabolic pathways and have clinical implications for the diagnosis of complex I deficiency.
Journal ArticleDOI
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Anne Roscher,Jaina Patel,Stacy Hewson,Laura Nagy,Annette Feigenbaum,Jonathan B. Kronick,Julian Raiman,Andreas Schulze,Komudi Siriwardena,Saadet Mercimek-Mahmutoglu +9 more
TL;DR: Close monitoring is recommended in all patients with GSD-VI and -IX for the long-term liver and cardiac complications and 16 novel pathogenic mutations in the PHKA2, PHKB, PHKG2 and PYGL genes are reported.
Journal ArticleDOI
Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.
Sali M.K. Farhan,Jian Wang,John F. Robinson,Piya Lahiry,Victoria Mok Siu,Victoria Mok Siu,Chitra Prasad,Chitra Prasad,Jonathan B. Kronick,David A. Ramsay,C. Anthony Rupar,C. Anthony Rupar,Robert A. Hegele +12 more
TL;DR: The first disease in man likely caused by deficiency in NFS1 is described, a cysteine desulfurase that is implicated in respiratory chain function and iron maintenance by initiating Fe‐S cluster biosynthesis is described and the results further demonstrate the importance of sufficient N FS1 expression in human physiology.