J
Julian Raiman
Researcher at University of Toronto
Publications - 60
Citations - 2408
Julian Raiman is an academic researcher from University of Toronto. The author has contributed to research in topics: Elosulfase alfa & Internal medicine. The author has an hindex of 28, co-authored 54 publications receiving 2000 citations. Previous affiliations of Julian Raiman include Guy's and St Thomas' NHS Foundation Trust & Guy's Hospital.
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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
Presentation, diagnosis, and medical management of heart failure in children: Canadian Cardiovascular Society guidelines.
Paul F. Kantor,Paul F. Kantor,Jane Lougheed,Adrian Dancea,Michael McGillion,Nicole Barbosa,Carol Chan,Rejane Dillenburg,Joseph Atallah,Holger Buchholz,Catherine Chant-Gambacort,J. Conway,J. Conway,Letizia Gardin,Kristen George,Steven C. Greenway,Derek G. Human,Aamir Jeewa,Jack F. Price,Robert D. Ross,S. Lucy Roche,Lindsay M. Ryerson,Reeni Soni,Judith Wilson,Kenny K. Wong,Sarah Bowdin,Charles E. Canter,Christian Drolet,Melanie D. Everitt,Mark K. Friedberg,Lars Grosse-Wortmann,Daphne T. Hsu,John L. Jefferies,Ashok Kakadekar,Seema Mital,Beth Kauffman,Robert S. McKelvie,Elfriede Pahl,J.E. Potts,Julian Raiman,Suryakant Shah,Elizabeth A. Stephenson,Thomasin Adams-Webber,Michelle M. Graham +43 more
TL;DR: In this paper, the authors present guidelines for the recognition, diagnosis, and early medical management of pediatric heart failure in infancy, childhood, and adolescence, which are intended to assist practitioners in office-based or emergency room practice, who encounter children with undiagnosed heart disease and symptoms of possible HF.
Journal ArticleDOI
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Ryan J. Taft,Adeline Vanderver,Richard J. Leventer,Stephen A. Damiani,Cas Simons,Sean M. Grimmond,David Miller,Johanna L. Schmidt,Paul J. Lockhart,Kate Pope,Kelin Ru,Joanna Crawford,Tena Rosser,Irenaeus F.M. de Coo,Monica Juneja,Ishwar Chander Verma,Prab Prabhakar,Susan Blaser,Julian Raiman,Petra J. W. Pouwels,Marianna R. Bevova,Truus E.M. Abbink,Marjo S. van der Knaap,Nicole I. Wolf +23 more
TL;DR: Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology.
Journal ArticleDOI
Clinical Features of Lysosomal Acid Lipase Deficiency.
Barbara K. Burton,Patrick Deegan,Gregory M. Enns,Ornella Guardamagna,Simon Horslen,Gerard K Hovingh,S. Lobritto,Vera Malinova,Valérie A. McLin,Julian Raiman,Maja Di Rocco,Saikat Santra,Reena Sharma,Jolanta Sykut-Cegielska,Chester B. Whitley,Stephen Eckert,V. Valayannopoulos,Anthony G. Quinn +17 more
TL;DR: This study provides the largest longitudinal case review of patients with Lal D and confirms that LAL D is predominantly a pediatric disease causing early and progressive hepatic dysfunction associated with dyslipidemia that often leads to liver failure and transplantation.
Journal ArticleDOI
Glycogen storage disease type IX: High variability in clinical phenotype
Nicholas J. Beauchamp,Ann Dalton,Uma Ramaswami,Harri Niinikoski,Karine Mention,Patricio Kenny,Kaija-Leena Kolho,Julian Raiman,John H. Walter,Eileen P. Treacy,Stuart Tanner,Mark Sharrard +11 more
TL;DR: Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.