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Publications

Recent Publications

The list below displays 20 of our most recent publications.

  1. 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; :. doi: 10.1242/dmm.049342.
  2. 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 SLE with Macrophage Activation Syndrome. J Rheumatol. 2022; :. doi: 10.3899/jrheum.211200.
  3. 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.
  4. 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.
  5. 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; :. doi: 10.1111/bju.15708.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. McMillan, HJ, Marshall, AE, Venkateswaran, S, Hartley, T, Warman-Chardon, J, Ramani, AK, Marshall, CR, Michaud, J, Boycott, KM, Dyment, DA, Kernohan, KD. Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. Clin Genet. 2021;99 (5):746-748. doi: 10.1111/cge.13935.
  18. Mulder, DJ, Khalouei, S, Warner, N, Gonzaga-Jauregui, C, Church, PC, Walters, TD, Ramani, AK, Griffiths, AM, Cohn, I, Muise, AM. Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease. Clin Transl Gastroenterol. 2020;11 (12):e00263. doi: 10.14309/ctg.0000000000000263.
  19. Amburgey, K, Acker, M, Saeed, S, Amin, R, Beggs, AH, Bönnemann, CG, Brudno, M, Constantinescu, A, Dastgir, J, Diallo, M, Genetti, CA, Glueck, M, Hewson, S, Hum, C, Jain, MS, Lawlor, MW, Meyer, OH, Nelson, L, Sultanum, N, Syed, F, Tran, T, Wang, CH, Dowling, JJ. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021;96 (10):e1425-e1436. doi: 10.1212/WNL.0000000000011458.
  20. Duan, L, Celik, A, Hoang, JA, Schmidthaler, K, So, D, Yin, X, Ditlof, CM, Ponce, M, Upton, JEM, Lee, JS, Hung, L, Breiteneder, H, Palladino, C, Atkinson, AR, Kim, VHD, Berenjy, A, Asper, M, Hummel, D, Wong, S, Alexanian-Farr, M, Magder, A, Chinthrajah, SR, Mukai, K, Tsai, M, Nadeau, K, Galli, SJ, Ramani, AK, Szepfalusi, Z, Eiwegger, T. Basophil activation test shows high accuracy in the diagnosis of peanut and tree nut allergy: The Markers of Nut Allergy Study. Allergy. 2021;76 (6):1800-1812. doi: 10.1111/all.14695.
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