Paediatrics Publications
Research in The Department of Paediatrics at Schulich School of Medicine & Dentistry is divided into eighteen areas of focus. These areas include cardiology, child development, critical care medicine, endocrinology/diabetes, genetics/metabolics, infectious disease, and neurology.
Submissions from 2020
Examining factors of accelerometer-measured sedentary time in a sample of rural Canadian children, Brenton L.G. Button, Gina Martin, Andrew F. Clark, Megan Graat, and Jason A. Gilliland
Exploring children's perceptions of barriers and facilitators to physical activity in rural Northwestern Ontario, Canada, Brenton L.G. Button, Suzanne Tillmann, and Jason Gilliland
Advances in the molecular classification of pediatric brain tumors: a guide to the galaxy, Chantel Cacciotti, Adam Fleming, and Vijay Ramaswamy
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy., Craig Campbell, Richard J Barohn, Enrico Bertini, Brigitte Chabrol, Giacomo Pietro Comi, Basil T Darras, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Susan T Iannaccone, Kristi J Jones, Janbernd Kirschner, Jean K Mah, Katherine D Mathews, Craig M McDonald, Eugenio Mercuri, Yoram Nevo, Yann Péréon, J Ben Renfroe, Monique M Ryan, Jacinda B Sampson, Ulrike Schara, Thomas Sejersen, Kathryn Selby, Már Tulinius, Juan J Vílchez, Thomas Voit, Lee-Jen Wei, Brenda L Wong, Gary Elfring, Marcio Souza, Joseph McIntosh, Panayiota Trifillis, Stuart W Peltz, and Francesco Muntoni
High-Risk, High-Reward Genetics in ASD, Christina A. Castellani and Dan E. Arking
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs, Christina A. Castellani, Ryan J. Longchamps, Jason A. Sumpter, Charles E. Newcomb, John A. Lane, Megan L. Grove, Jan Bressler, Jennifer A. Brody, James S. Floyd, Traci M. Bartz, Kent D. Taylor, Penglong Wang, Adrienne Tin, Josef Coresh, James S. Pankow, Myriam Fornage, Eliseo Guallar, Brian O'Rourke, Nathan Pankratz, Chunyu Liu, Daniel Levy, Nona Sotoodehnia, Eric Boerwinkle, and Dan E. Arking
Thinking outside the nucleus: Mitochondrial DNA copy number in health and disease, Christina A. Castellani, Ryan J. Longchamps, Jing Sun, Eliseo Guallar, and Dan E. Arking
Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry., Albert Català, Salah S Ali, Geoffrey D E Cuvelier, MacGregor Steele, Robert J Klaassen, Conrad V Fernandez, Yves D Pastore, Sharon Abish, Meera Rayar, Lawrence Jardine, Vicky R Breakey, Josee Brossard, Roona Sinha, Mariana Silva, Lisa Goodyear, Jeffrey H Lipton, Bruno Michon, Catherine Corriveau-Bourque, Lillian Sung, Supanun Lauhasurayotin, Bozana Zlateska, Michaela Cada, and Yigal Dror
Machine Learning Identifies Clinical and Genetic Factors Associated With Anthracycline Cardiotoxicity in Pediatric Cancer Survivors, Marie A. Chaix, Neha Parmar, Caroline Kinnear, Myriam Lafreniere-Roula, Oyediran Akinrinade, Roderick Yao, Anastasia Miron, Emily Lam, Guoliang Meng, Anne Christie, Ashok Kumar Manickaraj, Stacey Marjerrison, Rejane Dillenburg, Mylène Bassal, Jane Lougheed, Shayna Zelcer, Herschel Rosenberg, David Hodgson, Leonard Sender, Paul Kantor, Cedric Manlhiot, James Ellis, Luc Mertens, Paul C. Nathan, and Seema Mital
Machine Learning Identifies Clinical and Genetic Factors Associated With Anthracycline Cardiotoxicity in Pediatric Cancer Survivors, Marie-A Chaix; Neha Parmar; Caroline Kinnear; Myriam Lafreniere-Roula,; Oyediran Akinrinade; Roderick Yao; Anastasia Miron; Emily Lam; Guoliang Meng; Anne Christie; Ashok Kumar Manickaraj; Stacey Marjerrison; Rejane Dillenburg; Mylène Bassal; Jane Lougheed; Shayna Zelcer; Herschel Rosenberg; David Hodgson; Leonard Sender; Paul Kantor; Cedric Manlhiot; James Ellis; Luc Mertens; Paul C. Nathan; and Seema Mital
The impact of COVID-19 on Canadian urology residents, Ernest Pang Chan, Leandra Stringer, Peter Z.T. Wang, Sumit Dave, and Jeffrey D. Campbell
SJS/TEN 2019: From science to translation., Wan-Chun Chang, Riichiro Abe, Paul Anderson, Wanpen Anderson, Michael R Ardern-Jones, Thomas M Beachkofsky, Teresa Bellón, Agnieszka K Biala, Charles Bouchard, Gianpiero L Cavalleri, Nicole Chapman, James Chodosh, Hyon K Choi, Ricardo R Cibotti, Sherrie J Divito, Karen Dewar, Ulrike Dehaeck, Mahyar Etminan, Diane Forbes, Esther Fuchs, Jennifer L Goldman, James H Holmes, Elyse A Hope, Shuen-Iu Hung, Chia-Ling Hsieh, Alfonso Iovieno, Julienne Jagdeo, Mee Kum Kim, David M Koelle, Mario E Lacouture, Sophie Le Pallec, Rannakoe J Lehloenya, Robyn Lim, Angie Lowe, Jean McCawley, Julie McCawley, Robert G Micheletti, Maja Mockenhaupt, Katie Niemeyer, Michael A Norcross, Douglas Oboh, Cristina Olteanu, Helena B Pasieka, Jonathan Peter, Munir Pirmohamed, Michael Rieder, Hajirah N Saeed, Neil H Shear, Christine Shieh, Sabine Straus, Chonlaphat Sukasem, Cynthia Sung, Jason A Trubiano, Sheng-Ying Tsou, Mayumi Ueta, Simona Volpi, Chen Wan, Hongsheng Wang, Zhao-Qing Wang, Jessica Weintraub, Cindy Whale, Lisa M Wheatley, Sonia Whyte-Croasdaile, Kristina B Williams, Galen Wright, Sonia N Yeung, Li Zhou, Wen-Hung Chung, Elizabeth J Phillips, and Bruce C Carleton
Correction to: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes (Genetics in Medicine, (2020), 22, 8, (1391-1400), 10.1038/s41436-020-0812-7), Willie H. Chang, Pouria Mashouri, Alexander X. Lozano, Brittney Johnstone, Mia Husić, Annie Olry, Sylvie Maiella, Tugce B. Balci, Sarah L. Sawyer, Peter N. Robinson, Ana Rath, and Michael Brudno
Identification of adverse events in pediatric severe traumatic brain injury patients to target evidence-based prevention for increased performance improvement and patient safety., Tanyak Charyk Stewart, Kyle Luong, Ibrahim Alharfi, Brianna McKelvie, and Douglas D. Fraser
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome., Chun-An Chen, Emeline Crutcher, Harinder Gill, Tanya N Nelson, Laurie A Robak, Marjolijn C J Jongmans, Rolph Pfundt, Chitra Prasad, Roberta A Berard, Madeleine Fannemel, Eirik Frengen, Doriana Misceo, Keri Ramsey, Yaping Yang, Christian P Schaaf, and Xia Wang
Real-World Effectiveness of Common Treatment Strategies for Juvenile Idiopathic Arthritis: Results From a Canadian Cohort., Amieleena Chhabra, Kiem Oen, Adam M Huber, Natalie J Shiff, Gilles Boire, Susanne M Benseler, Roberta A Berard, Rosie Scuccimarri, Brian M Feldman, Lily Siok Hoon Lim, Julie Barsalou, Alessandra Bruns, David A Cabral, Gaëlle Chédeville, Janet Ellsworth, Kristin Houghton, Bianca Lang, Kimberly Morishita, Dax G Rumsey, Alan M Rosenberg, Shirley M Tse, Karen Watanabe Duffy, Ciaran M Duffy, and Jaime Guzman
Genomic data in prognostic models—what is lost in translation? The case of deletion 17p and mutant TP53 in chronic lymphocytic leukaemia, Benjamin Chin-Yee, Bekim Sadikovic, and Ian H. Chin-Yee
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature, A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace, E. Miele, J. Kerkhof, E. Flex, S. Martinelli, F.C. Radio, C.A.L Ruivenkamp, G.W.E. Santen, E.K. Bijlsma, D.Q.C.M. Barge-Schaapveld, K. Ounap, V. Mok Siu, F. F. Kooy, B. Dallapiccola, B. Sadikovic, and M. Tartaglia
Registered Replication Report on Fischer, Castel, Dodd, and Pratt (2003), Lincoln J. Colling, Dénes Szűcs, Damiano De Marco, Krzysztof Cipora, Rolf Ulrich, Hans Christoph Nuerk, Mojtaba Soltanlou, Donna Bryce, Sau Chin Chen, Philipp Alexander Schroeder, Dion T. Henare, Christine K. Chrystall, Paul M. Corballis, Daniel Ansari, Celia Goffin, H. Moriah Sokolowski, Peter J.B. Hancock, Ailsa E. Millen, Stephen R.H. Langton, Kevin J. Holmes, Mark S. Saviano, Tia A. Tummino, Oliver Lindemann, Rolf A. Zwaan, Jiří Lukavský, Adéla Becková, Marek A. Vranka, Simone Cutini, and Irene Cristina Mammarella
Social assistance and trajectories of child mental health problems in Canada: evidence from the National Longitudinal Survey of Children and Youth, Jinette Comeau, Laura Duncan, Katholiki Georgiades, Li Wang, and Michael H. Boyle
Cranial and ventricular size following shunting or endoscopic third ventriculostomy (ETV) in infants with aqueductal stenosis: further insights from the International Infant Hydrocephalus Study (IIHS), Ian C. Coulter, Abhaya V. Kulkarni, S. Sgouros, S. Constantini, Y. Leitner, J. R. Kestle, D. D. Cochrane, M. Choux, F. Gjerris, A. Sherer, N. Akalan, B. Bilginer, R. Navarro, L. Vujotic, H. Haberl, U. W. Thomale, G. Zúccaro, R. Jaimovitch, D. Frim, L. Loftis, D. M. Swift, B. Robertson, L. Gargan, L. Bognár, L. Novák, G. Cseke, A. Cama, G. M. Ravegnani, and M. Preuß
Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin, Melissa Crawford, Valerie Leclerc, Kevin Barr, and Lina Dagnino
Integrin-linked kinase regulates melanosome trafficking and melanin transfer in melanocytes, Melissa Crawford, Nancy Liu, Elahe Mahdipour, Kevin Barr, Bryan Heit, and Lina Dagnino
Impact of MindUP Among Young Children: Improvements in Behavioral Problems, Adaptive Skills, and Executive Functioning, Claire V. Crooks, Karen Bax, Andrea Delaney, Haesoo Kim, and Mostafa Shokoohi
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center, Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, and Shiqi Zhang