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Recent Publications

The list below displays 20 of our most recent publications.

  1. Kwong, JCC, Erdman, L, Khondker, A, Skreta, M, Goldenberg, A, McCradden, MD, Lorenzo, AJ, Rickard, M. The silent trial - the bridge between bench-to-bedside clinical AI applications. Front Digit Health. 2022;4 :929508. doi: 10.3389/fdgth.2022.929508.
  2. Weaver, JK, Milford, K, Rickard, M, Logan, J, Erdman, L, Viteri, B, D'Souza, N, Cucchiara, A, Skreta, M, Keefe, D, Shah, S, Selman, A, Fischer, K, Weiss, DA, Long, CJ, Lorenzo, A, Fan, Y, Tasian, GE. Deep learning imaging features derived from kidney ultrasounds predict chronic kidney disease progression in children with posterior urethral valves. Pediatr Nephrol. 2022; :. doi: 10.1007/s00467-022-05677-0.
  3. Wagner, MW, So, D, Guo, T, Erdman, L, Sheng, M, Ufkes, S, Grunau, RE, Synnes, A, Branson, HM, Chau, V, Shroff, MM, Ertl-Wagner, BB, Miller, SP. MRI based radiomics enhances prediction of neurodevelopmental outcome in very preterm neonates. Sci Rep. 2022;12 (1):11872. doi: 10.1038/s41598-022-16066-w.
  4. Monah, SR, Wagner, MW, Biswas, A, Khalvati, F, Erdman, LE, Amirabadi, A, Vidarsson, L, McCradden, MD, Ertl-Wagner, BB. Data governance functions to support responsible data stewardship in pediatric radiology research studies using artificial intelligence. Pediatr Radiol. 2022; :. doi: 10.1007/s00247-022-05427-2.
  5. Sarikaya, E, Sabha, N, Volpatti, J, Pannia, E, Maani, N, Gonorazky, HD, Celik, A, Liang, Y, Onofre-Oliveira, P, Dowling, JJ. Natural history of a mouse model of X-linked myotubular myopathy. Dis Model Mech. 2022;15 (7):. doi: 10.1242/dmm.049342.
  6. Lahiry, P, Naumenko, S, Couse, M, Liao, F, Dominguez, D, Knight, A, Levy, DM, Misztal, M, Ng, LWK, Hiraki, LT. Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome. J Rheumatol. 2022; :. doi: 10.3899/jrheum.211200.
  7. Driver, HG, Hartley, T, Price, EM, Turinsky, AL, Buske, OJ, Osmond, M, Ramani, AK, Kirby, E, Kernohan, KD, Couse, M, Elrick, H, Lu, K, Mashouri, P, Mohan, A, So, D, Klamann, C, Le, HGBH, Herscovich, A, Marshall, CR, Statia, A, Canada Consortium, CR, Knoppers, BM, Brudno, M, Boycott, KM. Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery. Hum Mutat. 2022;43 (6):800-811. doi: 10.1002/humu.24354.
  8. Osmond, M, Hartley, T, Johnstone, B, Andjic, S, Girdea, M, Gillespie, M, Buske, O, Dumitriu, S, Koltunova, V, Ramani, A, Boycott, KM, Brudno, M. PhenomeCentral: 7 years of rare disease matchmaking. Hum Mutat. 2022;43 (6):674-681. doi: 10.1002/humu.24348.
  9. Yadav, P, Rickard, M, Weaver, J, Chua, M, Kim, JK, Khondker, A, Milford, K, Keefe, DT, Lolas, M, Dos Santos, J, Erdman, L, Skreta, M, Selman, AF, Ashwal, E, Viteri, B, Ryan, G, Tasian, G, Lorenzo, AJ. Pre-versus postnatal presentation of posterior urethral valves: a multi-institutional experience. BJU Int. 2022;130 (3):350-356. doi: 10.1111/bju.15708.
  10. Siddaway, R, Milos, S, Vadivel, AKA, Dobson, THW, Swaminathan, J, Ryall, S, Pajovic, S, Patel, PG, Nazarian, J, Becher, O, Brudno, M, Ramani, A, Gopalakrishnan, V, Hawkins, C. Splicing is an alternate oncogenic pathway activation mechanism in glioma. Nat Commun. 2022;13 (1):588. doi: 10.1038/s41467-022-28253-4.
  11. Wang, J, Yang, J, Zhang, H, Lu, H, Skreta, M, Husić, M, Arbabi, A, Sultanum, N, Brudno, M. PhenoPad: Building AI enabled note-taking interfaces for patient encounters. NPJ Digit Med. 2022;5 (1):12. doi: 10.1038/s41746-021-00555-9.
  12. Drysdale, E, Khondker, A, Kim, JK, Kwong, JCC, Erdman, L, Chua, M, Keefe, DT, Lolas, M, Dos Santos, J, Tasian, G, Rickard, M, Lorenzo, AJ. Personalized application of machine learning algorithms to identify pediatric patients at risk for recurrent ureteropelvic junction obstruction after dismembered pyeloplasty. World J Urol. 2022;40 (2):593-599. doi: 10.1007/s00345-021-03879-z.
  13. Kwong, JC, Khondker, A, Kim, JK, Chua, M, Keefe, DT, Dos Santos, J, Skreta, M, Erdman, L, D'Souza, N, Selman, AF, Weaver, J, Weiss, DA, Long, C, Tasian, G, Teoh, CW, Rickard, M, Lorenzo, AJ. Posterior Urethral Valves Outcomes Prediction (PUVOP): a machine learning tool to predict clinically relevant outcomes in boys with posterior urethral valves. Pediatr Nephrol. 2022;37 (5):1067-1074. doi: 10.1007/s00467-021-05321-3.
  14. Ivanics, T, Nelson, W, Patel, MS, Claasen, MPAW, Lau, L, Gorgen, A, Abreu, P, Goldenberg, A, Erdman, L, Sapisochin, G. The Toronto Postliver Transplantation Hepatocellular Carcinoma Recurrence Calculator: A Machine Learning Approach. Liver Transpl. 2022;28 (4):593-602. doi: 10.1002/lt.26332.
  15. Skreta, M, Arbabi, A, Wang, J, Drysdale, E, Kelly, J, Singh, D, Brudno, M. Automatically disambiguating medical acronyms with ontology-aware deep learning. Nat Commun. 2021;12 (1):5319. doi: 10.1038/s41467-021-25578-4.
  16. Keefe, DT, Kim, JK, Mackay, E, Chua, M, Van Mieghem, T, Yadav, P, Lolas, M, Santos, JD, Skreta, M, Erdman, L, Weaver, J, Fermin, AS, Tasian, G, Lorenzo, AJ, Rickard, M. Predictive accuracy of prenatal ultrasound findings for lower urinary tract obstruction: A systematic review and Bayesian meta-analysis. Prenat Diagn. 2021;41 (9):1039-1048. doi: 10.1002/pd.6025.
  17. Oskoui, M, Gonorazky, H, McMillan, HJ, Dowling, JJ, Amin, R, Gagnon, C, Selby, K. Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective. Can J Neurol Sci. 2022;49 (3):398-401. doi: 10.1017/cjn.2021.125.
  18. Qashqari, H, Ramani, A, Gonorazky, H, Amburgey, K, Ghahramani Seno, MM, Brudno, M, Naumenko, S, Das, S, Dowling, JJ. Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly. Neurology. 2021; :. doi: 10.1212/WNL.0000000000012265.
  19. Apostolides, M, Jiang, Y, Husić, M, Siddaway, R, Hawkins, C, Turinsky, AL, Brudno, M, Ramani, AK. MetaFusion: A high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates. Bioinformatics. 2021; :. doi: 10.1093/bioinformatics/btab249.
  20. Gai, N, So, D, Siddiqui, A, Steinberg, BE. Dissemination of Anesthesia Information During the Coronavirus Disease 2019 Pandemic Through Twitter: An Infodemiology Study. Anesth Analg. 2021;133 (2):515-525. doi: 10.1213/ANE.0000000000005602.
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