Recent Publications
The list below displays 20 of our most recent publications.
- 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. 2023; :. doi: 10.1002/ajmg.a.63485.
- 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.
- 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. 2023; :. doi: 10.1002/ajmg.a.63466.
- 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. 2023; :. doi: 10.1038/s10038-023-01203-8.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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;11 (10):e2247. doi: 10.1002/mgg3.2247.
- 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;19 (5):584-585. doi: 10.1016/j.jpurol.2023.06.030.
- 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;180 (21):2822-2836. doi: 10.1111/bph.16168.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.