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Jump over to the section’s research profile to fully explore the nature and scope of our research publications over the years.
Recent publications
- Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIBMcCullough, K. B., Titus, A., Reardon, K., Conyers, S., Dougherty, J. D., Ge, X., Garbow, J. R., Dickson, P., Yuede, C. M. & Maloney, S. E., Dec 2024, In: Journal of neurodevelopmental disorders. 16, 1, 16.Research output: Contribution to journal › Article › peer-review
- The Brain Gene Registry: a data snapshotBaldridge, D., Kaster, L., Sancimino, C., Srivastava, S., Molholm, S., Gupta, A., Oh, I., Lanzotti, V., Grewal, D., Riggs, E. R., Savatt, J. M., Hauck, R., Sveden, A., Constantino, J. N., Piven, J., Gurnett, C. A., Chopra, M., Hazlett, H. & Payne, P. R. O., Dec 2024, In: Journal of neurodevelopmental disorders. 16, 1, 17.Research output: Contribution to journal › Article › peer-review
- LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsUndiagnosed Diseases Network, Dec 2024, In: BMC genomics. 25, 1, 115.Research output: Contribution to journal › Article › peer-review
- Phenotypic heterogeneity associated with a novel MECOM variant: Mild thrombocytopenia to hydrops fetalisJaspersen, S. L., Stacy, A. V., McGlynn, M. C., Gooch, C. F., Wilson, D. & Bolton, K. L., Jul 2024, In: Pediatric Blood and Cancer. 71, 7, e30991.Research output: Contribution to journal › Letter › peer-review
- Erratum: De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (The American Journal of Human Genetics (2024) 111(4) (778–790), (S0002929724000739), (10.1016/j.ajhg.2024.02.016))Care4Rare Canada Consortium & Undiagnosed Diseases Network, Jun 6 2024, In: American journal of human genetics. 111, 6, p. 1240 1 p.Research output: Contribution to journal › Comment/debate
- D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)Starosta, R. T., Lee, A. J., Toolan, E. R., He, M., Wongkittichote, P., Daniel, E. J. P., Radenkovic, S., Budhraja, R., Pandey, A., Sharma, J., Morava, E., Nguyen, H. & Dickson, P. I., Jun 2024, In: Molecular genetics and metabolism. 142, 2, 108488.Research output: Contribution to journal › Review article › peer-review
- De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic featuresCare4Rare Canada Consortium & Undiagnosed Diseases Network, Apr 4 2024, In: American journal of human genetics. 111, 4, p. 778-790 13 p.Research output: Contribution to journal › Article › peer-review
- Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetaseJones, A. G., Aquilino, M., Tinker, R. J., Duncan, L., Jenkins, Z., Carvill, G. L., DeWard, S. J., Grange, D. K., Hajianpour, M. J., Halliday, B. J., Holder-Espinasse, M., Horvath, J., Maitz, S., Nigro, V., Morleo, M., Paul, V., Spencer, C., Esterhuizen, A. I., Polster, T. & Spano, A. & 8 others, Gómez-Lozano, I., Kumar, A., Poke, G., Phillips, J. A., Underhill, H. R., Gimenez, G., Namba, T. & Robertson, S. P., Apr 4 2024, In: American journal of human genetics. 111, […]
- De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresBaylor College of Medicine Center for Precision Medicine Models, Apr 4 2024, In: American journal of human genetics. 111, 4, p. 742-760 19 p.Research output: Contribution to journal › Article › peer-review
- Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismUndiagnosed Diseases Network, Apr 2024, In: Annals of Clinical and Translational Neurology. 11, 4, p. 1075-1079 5 p.Research output: Contribution to journal › Article › peer-review