Explore our research fingerprint
Jump over to the section’s research profile to fully explore the nature and scope of our research publications over the years.
Recent publications
- 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
- 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
- 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
- Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behaviorLiu, A. C., Shen, Y., Serbinski, C. R., He, H., Roman, D., Endale, M., Aschbacher-Smith, L., King, K. A., Granadillo, J. L., López, I., Krueger, D. A., Dye, T. J., Smith, D. F., Hogenesch, J. B. & Prada, C. E., Oct 10 2024, In: Human Genetics and Genomics Advances. 5, 4, 100333.Research output: Contribution to journal › Article › peer-review
- Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiencyChrist, S. E., Arnold, G., Lichter-Konecki, U., Berry, G. T., Grange, D. K., Harding, C. O., Jurecki, E., Levy, H., Longo, N., Morotti, H., Sacharow, S., Thomas, J. & White, D. A., Sep 1 2024, In: Molecular genetics and metabolism. 143, 1-2, 108541.Research output: Contribution to journal › Article › peer-review
- Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndromeStarosta, R. T., Jensen, N., Couteranis, S., Slaugh, R., Easterlin, D., Tate, V., Sams, E. I., Valle, K., Akinwe, T., Hou, Y. C. C., Turner, T. N., Cole, F. S., Milbrandt, J. & Dickson, P., Sep 2024, In: European Journal of Human Genetics. 32, 9, p. 1095-1105 11 p.Research output: Contribution to journal › Article › peer-review
- Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic MucopolysaccharidosesMuenzer, J., Ho, C., Lau, H., Dant, M., Fuller, M., Boulos, N., Dickson, P., Ellinwood, N. M., Jones, S. A., Zanelli, E. & O'Neill, C., Aug 2024, In: Molecular genetics and metabolism. 142, 4, 108535.Research output: Contribution to journal › Review 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
- Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosisUndiagnosed Diseases Network, Jun 2024, In: Genetics in Medicine. 26, 6, 101115.Research output: Contribution to journal › Article › peer-review