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Recent Publications

The list below displays 30 of our most recent publications.

  1. 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; :. doi: 10.1002/acn3.70016. PubMed PMID:40191983 .
  2. 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; :e64046. doi: 10.1002/ajmg.a.64046. PubMed PMID:40071348 .
  3. 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.
  4. 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.
  5. 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 .
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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 .
  15. 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 .
  16. 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 .
  17. 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 .
  18. 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 .
  19. Marshall, AE, MacDonald, SK, Liang, Y, Couse, M, Care4Rare Canada Consortium, Boycott, KM et al.. 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. PubMed PMID:37489014 PubMed Central PMC10568379.
  20. Peterson, KA, Khalouei, S, Hanafi, N, Wood, JA, Lanza, DG, Lintott, LG et al.. 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. PubMed PMID:37301944 PubMed Central PMC10257658.
  21. Bhola, PT, Marshall, AE, Liang, Y, Couse, M, Wang, X, Miller, E et al.. 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. PubMed PMID:36995918 .
  22. Deshwar, AR, Yuki, KE, Hou, H, Liang, Y, Khan, T, Celik, A et al.. 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. PubMed PMID:36990084 PubMed Central PMC10183368.
  23. Christensen, E, Luo, P, Turinsky, A, Husić, M, Mahalanabis, A, Naidas, A et al.. Evaluation of single-cell RNAseq labelling algorithms using cancer datasets. Brief Bioinform. 2023;24 (1):. doi: 10.1093/bib/bbac561. PubMed PMID:36585784 PubMed Central PMC9851326.
  24. Mahalanabis, A, Turinsky, AL, Husić, M, Christensen, E, Luo, P, Naidas, A et al.. 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. PubMed PMID:36420149 PubMed Central PMC9677128.
  25. Hung, L, Celik, A, Yin, X, Yu, K, Berenjy, A, Kothari, A et al.. Precision cut intestinal slices, a novel model of acute food allergic reactions. Allergy. 2023;78 (2):500-511. doi: 10.1111/all.15579. PubMed PMID:36377289 PubMed Central PMC10098956.
  26. Awamleh, Z, Goodman, S, Kallurkar, P, Wu, W, Lu, K, Choufani, S et al.. 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. PubMed PMID:36367395 .
  27. Celik, A, Somer, M, Kukreja, B, Wu, T, Kalish, BT. The Genomic Architecture of Pregnancy-Associated Plasticity in the Maternal Mouse Hippocampus. eNeuro. 2022;9 (5):. doi: 10.1523/ENEURO.0117-22.2022. PubMed PMID:36239981 PubMed Central PMC9522463.
  28. Sarikaya, E, Sabha, N, Volpatti, J, Pannia, E, Maani, N, Gonorazky, HD et al.. Natural history of a mouse model of X-linked myotubular myopathy. Dis Model Mech. 2022;15 (7):. doi: 10.1242/dmm.049342. PubMed PMID:35694952 PubMed Central PMC9346535.
  29. Lahiry, P, Naumenko, S, Couse, M, Liao, F, Dominguez, D, Knight, A et al.. Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome. J Rheumatol. 2022;49 (10):1146-1151. doi: 10.3899/jrheum.211200. PubMed PMID:35649546 .
  30. Driver, HG, Hartley, T, Price, EM, Turinsky, AL, Buske, OJ, Osmond, M et al.. 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. PubMed PMID:35181971 PubMed Central PMC9311832.
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