Menu Close

Publications

Recent Publications

The list below displays 20 of our most recent publications.

  1. 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. 2023; :. doi: 10.1055/s-0043-1772172.
  2. 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. 2023; :. doi: 10.1111/bju.16159.
  3. Khondker, A, Kwong, JCC, Yadav, P, Chan, JYH, Singh, A, Erdman, L, Keefe, DT, Rickard, M, Lorenzo, AJ. A quantitative analysis of voiding cystourethrogram features confirms the association between high-grade vesicoureteral reflux with male sex, younger age, and hydronephrosis. Can Urol Assoc J. 2023;17 (8):243-246. doi: 10.5489/cuaj.8460.
  4. Marshall, AE, MacDonald, SK, Liang, Y, Couse, M, Care4Rare Canada Consortium, Boycott, KM, Richer, J, Kernohan, KD. RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report. Mol Genet Genomic Med. 2023; :e2247. doi: 10.1002/mgg3.2247.
  5. Bägli, DJ, Erdman, L. Commentary to deep learning based automatic quantification of urethral plate characteristics using the plate objective scoring tool (POST). J Pediatr Urol. 2023; :. doi: 10.1016/j.jpurol.2023.06.030.
  6. Ghazisaeidi, S, Muley, MM, Tu, Y, Finn, DP, Kolahdouzan, M, Pitcher, GM, Kim, D, Sengar, AS, Ramani, AK, Brudno, M, Salter, MW. Conserved transcriptional programming across sex and species after peripheral nerve injury predicts treatments for neuropathic pain. Br J Pharmacol. 2023; :. doi: 10.1111/bph.16168.
  7. Peterson, KA, Khalouei, S, Hanafi, N, Wood, JA, Lanza, DG, Lintott, LG, Willis, BJ, Seavitt, JR, Braun, RE, Dickinson, ME, White, JK, Lloyd, KCK, Heaney, JD, Murray, SA, Ramani, A, Nutter, LMJ. Whole genome analysis for 163 gRNAs in Cas9-edited mice reveals minimal off-target activity. Commun Biol. 2023;6 (1):626. doi: 10.1038/s42003-023-04974-0.
  8. Shooshtari, P, Feng, S, Nelakuditi, V, Asakereh, R, Hosseini Naghavi, N, Foong, J, Brudno, M, Cotsapas, C. Developing OCHROdb, a comprehensive quality checked database of open chromatin regions from sequencing data. Sci Rep. 2023;13 (1):8106. doi: 10.1038/s41598-022-26791-x.
  9. Bhola, PT, Marshall, AE, Liang, Y, Couse, M, Wang, X, Miller, E, Morel, CF, Boycott, KM, Kernohan, KD. RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder. Am J Med Genet A. 2023;191 (6):1664-1668. doi: 10.1002/ajmg.a.63184.
  10. Deshwar, AR, Yuki, KE, Hou, H, Liang, Y, Khan, T, Celik, A, Ramani, A, Mendoza-Londono, R, Marshall, CR, Brudno, M, Shlien, A, Meyn, MS, Hayeems, RZ, McKinlay, BJ, Klentrou, P, Wilson, MD, Kyriakopoulou, L, Costain, G, Dowling, JJ. Trio RNA sequencing in a cohort of medically complex children. Am J Hum Genet. 2023;110 (5):895-900. doi: 10.1016/j.ajhg.2023.03.006.
  11. Ivanics, T, So, D, Claasen, MPAW, Wallace, D, Patel, MS, Gravely, A, Choi, WJ, Shwaartz, C, Walker, K, Erdman, L, Sapisochin, G. Machine learning-based mortality prediction models using national liver transplantation registries are feasible but have limited utility across countries. Am J Transplant. 2023;23 (1):64-71. doi: 10.1016/j.ajt.2022.12.002.
  12. Sokolowski, DJ, Ahn, J, Erdman, L, Hou, H, Ellis, K, Wang, L, Goldenberg, A, Wilson, MD. Differential Expression Enrichment Tool (DEET): an interactive atlas of human differential gene expression. NAR Genom Bioinform. 2023;5 (1):lqad003. doi: 10.1093/nargab/lqad003.
  13. Christensen, E, Luo, P, Turinsky, A, Husić, M, Mahalanabis, A, Naidas, A, Diaz-Mejia, JJ, Brudno, M, Pugh, T, Ramani, A, Shooshtari, P. Evaluation of single-cell RNAseq labelling algorithms using cancer datasets. Brief Bioinform. 2023;24 (1):. doi: 10.1093/bib/bbac561.
  14. Villani, A, Davidson, S, Kanwar, N, Lo, WW, Li, Y, Cohen-Gogo, S, Fuligni, F, Edward, LM, Light, N, Layeghifard, M, Harripaul, R, Waldman, L, Gallinger, B, Comitani, F, Brunga, L, Hayes, R, Anderson, ND, Ramani, AK, Yuki, KE, Blay, S, Johnstone, B, Inglese, C, Hammad, R, Goudie, C, Shuen, A, Wasserman, JD, Venier, RE, Eliou, M, Lorenti, M, Ryan, CA, Braga, M, Gloven-Brown, M, Han, J, Montero, M, Spatare, F, Whitlock, JA, Scherer, SW, Chun, K, Somerville, MJ, Hawkins, C, Abdelhaleem, M, Ramaswamy, V, Somers, GR, Kyriakopoulou, L, Hitzler, J, Shago, M, Morgenstern, DA, Tabori, U, Meyn, S, Irwin, MS, Malkin, D, Shlien, A. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nat Cancer. 2023;4 (2):203-221. doi: 10.1038/s43018-022-00474-y.
  15. Mahalanabis, A, Turinsky, AL, Husić, M, Christensen, E, Luo, P, Naidas, A, Brudno, M, Pugh, T, Ramani, AK, Shooshtari, P. Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets. Comput Struct Biotechnol J. 2022;20 :6375-6387. doi: 10.1016/j.csbj.2022.10.029.
  16. Barraclough, M, Erdman, L, Diaz-Martinez, JP, Knight, A, Bingham, K, Su, J, Kakvan, M, Muñoz Grajales, C, Tartaglia, MC, Ruttan, L, Wither, J, Choi, MY, Bonilla, D, Appenzeller, S, Parker, B, Goldenberg, A, Katz, P, Beaton, D, Green, R, Bruce, IN, Touma, Z. Systemic lupus erythematosus phenotypes formed from machine learning with a specific focus on cognitive impairment. Rheumatology (Oxford). 2022; :. doi: 10.1093/rheumatology/keac653.
  17. Misztal, MC, Liao, F, Couse, M, Cao, J, Dominguez, D, Lau, L, Marshall, CR, Naumenko, S, Knight, AM, Levy, DM, Hiraki, LT. Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus. J Rheumatol. 2023;50 (5):671-675. doi: 10.3899/jrheum.220513.
  18. Hung, L, Celik, A, Yin, X, Yu, K, Berenjy, A, Kothari, A, Obernolte, H, Upton, JEM, Lindholm Bøgh, K, Somers, GR, Siddiqui, I, Grealish, M, Quereshy, FA, Sewald, K, Chiu, PPL, Eiwegger, T. Precision cut intestinal slices, a novel model of acute food allergic reactions. Allergy. 2023;78 (2):500-511. doi: 10.1111/all.15579.
  19. Awamleh, Z, Goodman, S, Kallurkar, P, Wu, W, Lu, K, Choufani, S, Turinsky, AL, Weksberg, R. Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral. Curr Protoc. 2022;2 (11):e597. doi: 10.1002/cpz1.597.
  20. Hartley, T, Soubry, É, Acker, M, Osmond, M, Couse, M, Gillespie, MK, Ito, Y, Marshall, AE, Lemire, G, Huang, L, Chisholm, C, Eaton, AJ, Price, EM, Dowling, JJ, Ramani, AK, Mendoza-Londono, R, Costain, G, Axford, MM, Szuto, A, McNiven, V, Damseh, N, Jobling, R, de Kock, L, Mojarad, BA, Young, T, Shao, Z, Hayeems, RZ, Graham, ID, Tarnopolsky, M, Brady, L, Armour, CM, Geraghty, M, Richer, J, Sawyer, S, Lines, M, Mercimek-Andrews, S, Carter, MT, Graham, G, Kannu, P, Lazier, J, Li, C, Aul, RB, Balci, TB, Dlamini, N, Badalato, L, Guerin, A, Walia, J, Chitayat, D, Cohn, R, Faghfoury, H, Forster-Gibson, C, Gonorazky, H, Grunebaum, E, Inbar-Feigenberg, M, Karp, N, Morel, C, Rusnak, A, Sondheimer, N, Warman-Chardon, J, Bhola, PT, Bourque, DK, Chacon, IJ, Chad, L, Chakraborty, P, Chong, K, Doja, A, Goh, ES, Saleh, M, Care4Rare Canada, Potter, BK, Marshall, CR, Dyment, DA, Kernohan, K, Boycott, KM. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clin Genet. 2023;103 (3):288-300. doi: 10.1111/cge.14262.
Search PubMed