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Recent Publications

The list below displays 30 of our most recent publications.

  1. Khondker, A, Hua, SBZ, Kwong, JCC, Sheth, K, Alvarez, D, Velaer, KN et al.. Longitudinal image-based prediction of surgical intervention in infants with hydronephrosis using deep learning: Is a single ultrasound enough?. PLOS Digit Health. 2025;4 (8):e0000939. doi: 10.1371/journal.pdig.0000939. PubMed PMID:40758672 PubMed Central PMC12321052.
  2. Singh, D, Celik, A, Zhang, EWJ, Liu, E, Rosenfield, D. AI-Driven Injury Reporting in Pediatric Emergency Departments. JAMA Netw Open. 2025;8 (7):e2524154. doi: 10.1001/jamanetworkopen.2025.24154. PubMed PMID:40742588 PubMed Central PMC12314733.
  3. Hua, SBZ, Heller, N, He, P, Towbin, AJ, Chen, IY, Lu, AX et al.. Lack of children in public medical imaging data points to growing age bias in biomedical AI. medRxiv. 2025; :. doi: 10.1101/2025.06.06.25328913. PubMed PMID:40661269 PubMed Central PMC12259205.
  4. Stark, JC, Pipko, N, Liang, Y, Szuto, A, Tsoi, CT, Dickson, MA et al.. Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort. Genome Med. 2025;17 (1):72. doi: 10.1186/s13073-025-01494-w. PubMed PMID:40597352 PubMed Central PMC12210447.
  5. Hou, H, Yuki, KE, Costain, G, Szuto, A, Barnes, S, Ramani, AK et al.. Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing. NPJ Genom Med. 2025;10 (1):51. doi: 10.1038/s41525-025-00505-4. PubMed PMID:40593860 PubMed Central PMC12215727.
  6. Nava, C, Cogne, B, Santini, A, Leitão, E, Lecoquierre, F, Chen, Y et al.. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet. 2025;57 (6):1374-1388. doi: 10.1038/s41588-025-02184-4. PubMed PMID:40379786 PubMed Central PMC12165858.
  7. Mingoia, M, Meloni, A, Sedda, S, Choufani, S, Asunis, I, Gemma, G et al.. A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome. Clin Genet. 2025; :. doi: 10.1111/cge.14763. PubMed PMID:40304117 .
  8. Cuillerier, A, Del Gobbo, GF, Mackay, L, Wall, E, Couse, M, McDonell, LM et al.. FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium. Ann Clin Transl Neurol. 2025;12 (6):1118-1125. doi: 10.1002/acn3.70016. PubMed PMID:40191983 PubMed Central PMC12172122.
  9. Gaibee, Z, Warner, N, Bugda Gwilt, K, Li, W, Guan, R, Yourshaw, M et al.. The Genetic Architecture of Congenital Diarrhea and Enteropathy. N Engl J Med. 2025;392 (13):1297-1309. doi: 10.1056/NEJMoa2405333. PubMed PMID:40174224 PubMed Central PMC11968080.
  10. de Kock, L, Nougues, M, Couse, M, Mears, W, Eaton, AJ, Kernohan, KD et al.. A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus. Am J Med Genet A. 2025;197 (7):e64046. doi: 10.1002/ajmg.a.64046. PubMed PMID:40071348 .
  11. Sundrelingam, V, Parimoo, S, Pogacar, F, Koppula, R, Shin, S, Pou-Prom, C et al.. pyDeid: an improved, fast, flexible, and generalizable rule-based approach for deidentification of free-text medical records. JAMIA Open. 2025;8 (1):ooae152. doi: 10.1093/jamiaopen/ooae152. PubMed PMID:39845288 PubMed Central PMC11752853.
  12. Haque, B, Cheerie, D, Pan, A, Curtis, M, Nalpathamkalam, T, Nguyen, J et al.. Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants. PLoS Genet. 2025;21 (1):e1011540. doi: 10.1371/journal.pgen.1011540. PubMed PMID:39761285 PubMed Central PMC11737861.
  13. Lee, ES, Smith, HW, Wang, YE, Ihn, SS, Scalize de Oliveira, L, Kejiou, NS et al.. N-6-methyladenosine (m6A) promotes the nuclear retention of mRNAs with intact 5' splice site motifs. Life Sci Alliance. 2025;8 (2):. doi: 10.26508/lsa.202403142. PubMed PMID:39626965 PubMed Central PMC11629677.
  14. Del Gobbo, GF, Wang, X, MacDonald, SK, Liang, Y, Care4Rare Canada Consortium, McMillan, HJ et al.. A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy. Am J Med Genet A. 2025;197 (4):e63944. doi: 10.1002/ajmg.a.63944. PubMed PMID:39559931 .
  15. Ghasempour, S, Warner, N, Guan, R, Rodari, MM, Ivanochko, D, Whittaker Hawkins, R et al.. Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis. J Exp Med. 2024;221 (12):. doi: 10.1084/jem.20240546. PubMed PMID:39526957 PubMed Central PMC11554753.
  16. Delgado-Vega, AM, Cederroth, H, Taylan, F, Ekholm, K, Ek, M, Thonberg, H et al.. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024;56 (11):2287-2294. doi: 10.1038/s41588-024-01941-1. PubMed PMID:39433890 PubMed Central PMC12198426.
  17. Erdman, L, Rickard, M, Drysdale, E, Skreta, M, Hua, SB, Sheth, K et al.. Author Correction: The Hydronephrosis Severity Index guides paediatric antenatal hydronephrosis management based on artificial intelligence applied to ultrasound images alone. Sci Rep. 2024;14 (1):24475. doi: 10.1038/s41598-024-76145-y. PubMed PMID:39424912 PubMed Central PMC11489647.
  18. Lesurf, R, Breckpot, J, Bouwmeester, J, Hanafi, N, Jain, A, Liang, Y et al.. A validated heart-specific model for splice-disrupting variants in childhood heart disease. Genome Med. 2024;16 (1):119. doi: 10.1186/s13073-024-01383-8. PubMed PMID:39402625 PubMed Central PMC11476204.
  19. Erdman, L, Rickard, M, Drysdale, E, Skreta, M, Hua, SB, Sheth, K et al.. The Hydronephrosis Severity Index guides paediatric antenatal hydronephrosis management based on artificial intelligence applied to ultrasound images alone. Sci Rep. 2024;14 (1):22748. doi: 10.1038/s41598-024-72271-9. PubMed PMID:39349526 PubMed Central PMC11442661.
  20. Bachmeier-Zbären, N, Celik, A, van Brummelen, R, Roos, N, Steinmann, M, Hoang, JA et al.. Clinical utility analysis of the Hoxb8 mast cell activation test for the diagnosis of peanut allergy. Allergy. 2025;80 (1):215-226. doi: 10.1111/all.16341. PubMed PMID:39340441 PubMed Central PMC11724244.
  21. Quach, H, Farrell, S, Wu, MJM, Kanagarajah, K, Leung, JW, Xu, X et al.. 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. PubMed PMID:39003323 PubMed Central PMC11246468.
  22. Pellerin, D, Del Gobbo, GF, Couse, M, Dolzhenko, E, Nageshwaran, SK, Cheung, WA et al.. 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. PubMed PMID:38937606 PubMed Central PMC11440897.
  23. Kennedy, AM, Griffiths, AM, Muise, AM, Walters, TD, Ricciuto, A, Huynh, HQ et al.. Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients. Inflamm Bowel Dis. 2024;30 (12):2418-2427. doi: 10.1093/ibd/izae109. PubMed PMID:38788739 PubMed Central PMC11630297.
  24. Warman-Chardon, J, Hartley, T, Marshall, AE, McBride, A, Couse, M, Macdonald, W et al.. 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. PubMed PMID:38235364 PubMed Central PMC10508790.
  25. He, P, Moraes, TJ, Dai, D, Reyna-Vargas, ME, Dai, R, Mandhane, P et al.. 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. PubMed PMID:38212387 PubMed Central PMC11245385.
  26. Del Gobbo, GF, Wang, X, Couse, M, Mackay, L, Goldsmith, C, Marshall, AE et al.. 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. PubMed PMID:38131126 .
  27. Marshall, AE, Lemire, G, Liang, Y, Davila, J, Couse, M, Care4Rare Canada Consortium et al.. 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. PubMed PMID:38050708 .
  28. de Kock, L, Cuillerier, A, Gillespie, M, Couse, M, Hartley, T, Mears, W et al.. 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. PubMed PMID:37949664 .
  29. Marshall, AE, Liang, Y, Couse, M, McConkey, H, Care4Rare Canada Consortium, Sadikovic, B et al.. 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. PubMed PMID:37904029 .
  30. Apostolides, M, Li, M, Arnoldo, A, Ku, M, Husić, M, Ramani, AK et al.. 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. PubMed PMID:37748705 .
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