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Recent Publications

The list below displays 20 of our most recent publications.

  1. Quach, H, Farrell, S, Wu, MJM, Kanagarajah, K, Leung, JW, Xu, X, Kallurkar, P, Turinsky, AL, Bear, CE, Ratjen, F, Kalish, B, Goyal, S, Moraes, TJ, Wong, AP. Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity. Nat Commun. 2024;15 (1):5898. doi: 10.1038/s41467-024-50281-5.
  2. Pellerin, D, Del Gobbo, GF, Couse, M, Dolzhenko, E, Nageshwaran, SK, Cheung, WA, Xu, IRL, Dicaire, MJ, Spurdens, G, Matos-Rodrigues, G, Stevanovski, I, Scriba, CK, Rebelo, A, Roth, V, Wandzel, M, Bonnet, C, Ashton, C, Agarwal, A, Peter, C, Hasson, D, Tsankova, NM, Dewar, K, Lamont, PJ, Laing, NG, Renaud, M, Houlden, H, Synofzik, M, Usdin, K, Nussenzweig, A, Napierala, M, Chen, Z, Jiang, H, Deveson, IW, Ravenscroft, G, Akbarian, S, Eberle, MA, Boycott, KM, Pastinen, T, All of Us Research Program Long Read Working Group, Brais, B, Zuchner, S, Danzi, MC. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nat Genet. 2024;56 (7):1366-1370. doi: 10.1038/s41588-024-01808-5.
  3. Ufkes, S, Kennedy, E, Poppe, T, Miller, SP, Thompson, B, Guo, J, Harding, JE, Crowther, CA. Prenatal Magnesium Sulfate and Functional Connectivity in Offspring at Term-Equivalent Age. JAMA Netw Open. 2024;7 (5):e2413508. doi: 10.1001/jamanetworkopen.2024.13508.
  4. Kennedy, AM, Griffiths, AM, Muise, AM, Walters, TD, Ricciuto, A, Huynh, HQ, Wine, E, Jacobson, K, Lawrence, S, Carman, N, Mack, DR, deBruyn, JC, Otley, AR, Deslandres, C, El-Matary, W, Zachos, M, Benchimol, EI, Critch, J, Schneider, R, Crowley, E, Li, M, Warner, N, McGovern, DPB, Li, D, Haritunians, T, Rudin, S, Cohn, I. Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients. Inflamm Bowel Dis. 2024; :. doi: 10.1093/ibd/izae109.
  5. Selvanathan, T, Guo, T, Ufkes, S, Chau, V, Branson, HM, Synnes, AR, Ly, LG, Kelly, E, Grunau, RE, Miller, SP. Change in Volumes and Location of Preterm White Matter Injury over a Period of 15 Years. J Pediatr. 2024;272 :114090. doi: 10.1016/j.jpeds.2024.114090.
  6. Kasera, B, Shinar, S, Edke, P, Pruthi, V, Goldenberg, A, Erdman, L, Van Mieghem, T. Deep-learning computer vision can identify increased nuchal translucency in the first trimester of pregnancy. Prenat Diagn. 2024;44 (5):535-543. doi: 10.1002/pd.6559.
  7. Selvanathan, T, Guo, T, Ufkes, S, Chau, V, Branson, H, Synnes, A, Ly, LG, Kelly, EN, Grunau, RE, Miller, SP. Size and Location of Preterm Brain Injury and Associations With Neurodevelopmental Outcomes. Neurology. 2024;102 (8):e209264. doi: 10.1212/WNL.0000000000209264.
  8. Selvanathan, T, Ufkes, S, Guo, T, Chau, V, Branson, HM, Ibrahim, GM, Ly, LG, Kelly, EN, Grunau, RE, Miller, SP. Pain Exposure and Brain Connectivity in Preterm Infants. JAMA Netw Open. 2024;7 (3):e242551. doi: 10.1001/jamanetworkopen.2024.2551.
  9. Khondker, A, Kwong, JCC, Rickard, M, Erdman, L, Kim, JK, Ahmad, I, Weaver, J, Fernandez, N, Tasian, GE, Kulkarni, GS, Lorenzo, AJ. Application of STREAM-URO and APPRAISE-AI reporting standards for artificial intelligence studies in pediatric urology: A case example with pediatric hydronephrosis. J Pediatr Urol. 2024;20 (3):455-467. doi: 10.1016/j.jpurol.2024.01.020.
  10. Warman-Chardon, J, Hartley, T, Marshall, AE, McBride, A, Couse, M, Macdonald, W, Mann, MRW, Bourque, PR, Breiner, A, Lochmüller, H, Woulfe, J, Sampaio, ML, Melkus, G, Brais, B, Dyment, DA, Boycott, KM, Kernohan, K. Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurol Genet. 2023;9 (5):e200088. doi: 10.1212/NXG.0000000000200088.
  11. He, P, Moraes, TJ, Dai, D, Reyna-Vargas, ME, Dai, R, Mandhane, P, Simons, E, Azad, MB, Hoskinson, C, Petersen, C, Del Bel, KL, Turvey, SE, Subbarao, P, Goldenberg, A, Erdman, L. Early prediction of pediatric asthma in the Canadian Healthy Infant Longitudinal Development (CHILD) birth cohort using machine learning. Pediatr Res. 2024;95 (7):1818-1825. doi: 10.1038/s41390-023-02988-2.
  12. Del Gobbo, GF, Wang, X, Couse, M, Mackay, L, Goldsmith, C, Marshall, AE, Liang, Y, Lambert, C, Zhang, S, Dhillon, H, Fanslow, C, Rowell, WJ, Care4Rare Canada Consortium, Marshall, CR, Kernohan, KD, Boycott, KM. Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development. Am J Med Genet A. 2024;194 (5):e63522. doi: 10.1002/ajmg.a.63522.
  13. Marshall, AE, Lemire, G, Liang, Y, Davila, J, Couse, M, Care4Rare Canada Consortium, Boycott, KM, Kernohan, KD. RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31. Am J Med Genet A. 2024;194 (4):e63485. doi: 10.1002/ajmg.a.63485.
  14. Ufkes, S, Zuercher, M, Erdman, L, Slorach, C, Mertens, L, Taylor, KL. Automatic Prediction of Paediatric Cardiac Output From Echocardiograms Using Deep Learning Models. CJC Pediatr Congenit Heart Dis. 2023;2 (1):12-19. doi: 10.1016/j.cjcpc.2022.11.001.
  15. de Kock, L, Cuillerier, A, Gillespie, M, Couse, M, Hartley, T, Mears, W, Bernier, FP, Chudley, AE, Frosk, P, Nikkel, SM, Innes, AM, Lauzon, J, Thomas, M, Guerin, A, Armour, CM, Weksberg, R, Scott, JN, Watkins, D, Harvey, S, Cytrynbaum, C, Care4Rare Canada Consortium, Kernohan, KD, Boycott, KM. Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach. Am J Med Genet A. 2024;194 (3):e63466. doi: 10.1002/ajmg.a.63466.
  16. Marshall, AE, Liang, Y, Couse, M, McConkey, H, Care4Rare Canada Consortium, Sadikovic, B, Boycott, KM, Dyment, DA, Kernohan, KD. Integrated omics analyses clarifies ATRX copy number variant of uncertain significance. J Hum Genet. 2024;69 (2):101-105. doi: 10.1038/s10038-023-01203-8.
  17. Apostolides, M, Li, M, Arnoldo, A, Ku, M, Husić, M, Ramani, AK, Brudno, M, Turinsky, A, Hawkins, C, Siddaway, R. Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing. J Mol Diagn. 2023;25 (12):921-931. doi: 10.1016/j.jmoldx.2023.09.002.
  18. Warsi, NM, Wong, SM, Germann, J, Boutet, A, Arski, ON, Anderson, R, Erdman, L, Yan, H, Suresh, H, Gouveia, FV, Loh, A, Elias, GJB, Kerr, E, Smith, ML, Ochi, A, Otsubo, H, Sharma, R, Jain, P, Donner, E, Lozano, AM, Snead, OC, Ibrahim, GM. Dissociable default-mode subnetworks subserve childhood attention and cognitive flexibility: Evidence from deep learning and stereotactic electroencephalography. Neural Netw. 2023;167 :827-837. doi: 10.1016/j.neunet.2023.07.019.
  19. Richter, J, Doktor, F, Good, H, Erdman, L, Kim, JK, Santos, JD, Brownrigg, N, Chua, M, Lorenzo, AJ, Rickard, M, Mieghem, TV, Shinar, S. Trends in Management of Fetuses with Suspected Lower Urinary Tract Obstruction (LUTO): A High-Risk Fetal and Pediatric Center Experience in a Universal-Access-to-Care System. Eur J Pediatr Surg. 2024;34 (1):91-96. doi: 10.1055/s-0043-1772172.
  20. Khondker, A, Kwong, JCC, Chancy, M, D'Souza, N, Kim, K, Kim, JK, Tse, LN, Chua, M, Yadav, P, Erdman, L, Weaver, J, Lorenzo, AJ, Rickard, M. Predicting obstruction risk using common ultrasonography parameters in paediatric hydronephrosis with machine learning. BJU Int. 2024;133 (1):79-86. doi: 10.1111/bju.16159.
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