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Recent Publications

The list below displays 30 of our most recent publications.

  1. 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 .
  2. 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 .
  3. 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 .
  4. 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.
  5. 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.
  6. 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 .
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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 .
  16. 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 .
  17. 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 .
  18. 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 .
  19. 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 .
  20. 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.
  21. 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.
  22. 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 .
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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 .
  28. 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.
  29. 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.
  30. 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 .
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