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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
- 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
- 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
- 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
- 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
- Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin TherapyO'Brien, M. A., Culican, S., Shinawi, M. S. & Zaidman, C. M., Dec 10 2024, In: Neurology. 103, 11, p. e209969Research output: Contribution to journal › Article › peer-review
- Prevalence rates for ectodermal dysplasia syndromesButcher, C., Abbott, B. M., Grange, D., Fete, M., Meyer, B., Spinka, C. & Fete, T., Dec 2024, In: American Journal of Medical Genetics, Part A. 194, 12, e63832.Research output: Contribution to journal › Article › peer-review
- Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic featuresSharma, P., McFadden, J. R., Frost, F. G., Markello, T. C., Grange, D. K., Introne, W. J., Gahl, W. A. & Malicdan, M. C. V., Dec 2024, In: Human genetics. 143, 12, p. 1445-1457 13 p.Research output: Contribution to journal › Article › peer-review
- Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionPehlivan, D., Bengtsson, J. D., Bajikar, S. S., Grochowski, C. M., Lun, M. Y., Gandhi, M., Jolly, A., Trostle, A. J., Harris, H. K., Suter, B., Aras, S., Ramocki, M. B., Du, H., Mehaffey, M. G., Park, K. H., Wilkey, E., Karakas, C., Eisfeldt, J. J., Pettersson, M. & Liu, L. & 23 others, Shinawi, M. S., Kimonis, V. E., Wiszniewski, W., Mckenzie, K., Roser, T., Vianna-Morgante, A. M., Cornier, A. S., Abdelmoity, A., Hwang, J. P., Jhangiani, S. N., Muzny, D. M., […]
- A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1Gao, J., Ververi, A., Thompson, E., Tryon, R., Sotiriadis, A., Rouvalis, F., Grange, D. K., Giannios, C. & Nichols, C. G., Dec 2024, In: American Journal of Medical Genetics, Part A. 194, 12, e63815.Research output: Contribution to journal › Article › peer-review