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

  • 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
  • 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
  • MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaksMathias, B., O'Leary, D., Saucier, N., Ahmad, F., White, L. S., Russell, LM. M., Shinawi, M., Smith, M. J., Abraham, R. S., Cooper, M. A., Kitcharoensakkul, M., Green, A. M. & Bednarski, J. J., Apr 2024, In: Journal of Allergy and Clinical Immunology. 153, 4, p. 1113-1124.e7Research output: Contribution to journal › Article › peer-review
  • CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature reviewAl-Kateb, H., Au, P. Y. B., Berland, S., Cogne, B., Demurger, F., Fluss, J., Isidor, B., Frank, L. M., Varvagiannis, K., Koolen, D. A., McDonald, M., Montgomery, S., Moortgat, S., Deprez, M., Karadurmus, D., Paulsen, J., Reis, A., Rieger, M., Vasileiou, G., Willing, M., & 1 othersShinawi, M., Mar 2024, In: Clinical Genetics. 105, 3, p. 294-301 8 p.Research output: Contribution to journal › Article › peer-review
  • Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type IHurt, S. C., Vera, M. U., Le, S. Q., Kan, S. H., Bui, Q. & Dickson, P. I., Mar 2024, In: Molecular Genetics and Metabolism Reports. 38, 101036.Research output: Contribution to journal › Article › peer-review
  • MFSD7c functions as a transporter of choline at the blood–brain barrierNguyen, X. T. A., Le, T. N. U., Nguyen, T. Q., Thi Thuy Ha, H., Artati, A., Leong, N. C. P., Nguyen, D. T., Lim, P. Y., Susanto, A. V., Huang, Q., Fam, L., Leong, L. N., Bonne, I., Lee, A., Granadillo, J. L., Gooch, C., Yu, D., Huang, H., Soong, T. W., Chang, M. W., & 4 othersWenk, M. R., Adamski, J., Cazenave-Gassiot, A. & Nguyen, L. N., Mar 2024, In: Cell Research. 34, 3, p. 245-257 13 p.Research output: Contribution to journal › Article › peer-review
  • Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsDeciphering Developmental Disorders, Genomics England Research Consortium & Undiagnosed Disease Network, Feb 2024, In: Genetics in Medicine. 26, 2, 101023.Research output: Contribution to journal › Article › peer-review
  • Identification of a leucine-mediated threshold effect governing macrophage mTOR signalling and cardiovascular riskZhang, X., Kapoor, D., Jeong, S. J., Fappi, A., Stitham, J., Shabrish, V., Sergin, I., Yousif, E., Rodriguez-Velez, A., Yeh, Y. S., Park, A., Yurdagul, A., Rom, O., Epelman, S., Schilling, J. D., Sardiello, M., Diwan, A., Cho, J., Stitziel, N. O., Javaheri, A., & 3 othersLodhi, I. J., Mittendorfer, B. & Razani, B., Feb 2024, In: Nature Metabolism. 6, 2, p. 359-377 19 p.Research output: Contribution to journal › Article › peer-review
  • A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Undiagnosed Diseases Network, Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.Research output: Contribution to journal › Article › peer-review