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
- Antibodies to recombinant human alpha-L-iduronidase prevent disease correction in cortical bone in MPS I miceHurt, S. C., Le, S. Q., Kan, S. H., Bui, Q. D., Brodt, M. D. & Dickson, P. I., Mar 13 2025, In: Molecular Therapy – Methods and Clinical Development. 33, 1, 101405.Research output: Contribution to journal › Article › peer-review
- Phenylketonuria in adults: we know plenty, but there is much more to learnMembers of the PHEFREE Consortium, Mar 2025, In: American Journal of Clinical Nutrition. 121, 3, p. 741-743 3 p.Research output: Contribution to journal › Letter › peer-review
- Association of Social Determinants of Health with Genetic Test Request and Completion Rates in Children with Neurologic DisordersCole, J. J., Williams, J. P., Sellitto, A. D., Baratta, L. R., Huecker, J. B., Baldridge, D., Kannampallil, T., Gurnett, C. A. & Balls-Berry, J. E., Feb 12 2025, In: Neurology. 104, 5, e210275.Research output: Contribution to journal › Article › peer-review
- Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkUndiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.Research output: Contribution to journal › Article › peer-review
- Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse modelsZiółkowska, E. A., Jansen, M. J., Williams, L. L., Wang, S. H., Eultgen, E. M., Takahashi, K., Le, S. Q., Nelvagal, H. R., Sharma, J., Sardiello, M., DeBosch, B. J., Dickson, P. I., Anderson, J. B., Sax, S. E., Wright, C. M., Bradley, R. P., Whiteman, I. T., Makita, T., Grider, J. R. & Sands, M. S. & 2 others, Heuckeroth, R. O. & Cooper, J. D., Jan 15 2025, In: Science translational medicine. 17, 781, eadj1445.Research output: Contribution to journal › Article […]
- Acute metabolic decompensation after liver transplant in a patient with maple syrup urine diseaseTu, S. C., Khan, M., Wolfe, K., Kulkarni, S. S., Toolan, E. & Grange, D. K., Jan 2025, In: JIMD Reports. 66, 1, e12460.Research output: Contribution to journal › Article › peer-review
- Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderBlackburn, P. R., Ebstein, F., Hsieh, T. C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A. & Joset, P. & 59 others, Ferrero, G. B., Ciolfi, A., Husson, T., Guerrot, A. M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpál, […]
- Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathyThe Undiagnosed Diseases Network, Jan 2025, In: American Journal of Medical Genetics, Part A. 197, 1, e63854.Research output: Contribution to journal › Article › peer-review
- Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.Research output: Contribution to journal › Article › peer-review
- Single-Gene Deletion of FGF3 in a Patient With Features of 11q13 Microdeletion SyndromeRahi, H., Dickson, P. I., Toler, T. L., Corliss, M. M. & Cao, Y., 2025, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review