Research output per year
Research output per year
Personal profile
Research interests
Molecular genetics of human bone and mineral diseases, including juvenile Paget’s disease, metachondromatosis, hypophosphatasia, hypophosphatemic rickets, spondyloepiphyseal dysplasia tarda, and others. We study a variety of heritable bone diseases, identifying the genes and precise genetic mutations that cause these disorders, and examining how these mutations disrupt signaling pathways/bone turnover, to elucidate the pathobiology of these disorders.
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Collaborations and top research areas from the last five years
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Pediatric hypophosphatasia: avoid diagnosis missteps!
Whyte, M., McAlister, W. H., Mack, K. E., Mumm, S. & Madson, K. L., Jun 2024, In: Journal of Bone and Mineral Research. 39, 6, p. 655-660 6 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder
Whyte, M. P., Weinstein, R. S., Phillips, P. H., McAlister, W. H., Ramakrishnaiah, R. H., Schaefer, G. B., Cai, R., Hutchison, M. R., Duan, S., Gottesman, G. S. & Mumm, S., Nov 2024, In: Bone. 188, 117218.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy
Craven, M., Vajravelu, M. E., Shekdar, K. V., Levine, M. A., Mumm, S., Whyte, M. P. & Mancilla, E. E., May 2023, In: Bone. 170, 116698.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6
Whyte, M., Mumm, S., Baker, J. C., Zhang, F., Sedighi, H., Duan, S. & Cundy, T., Apr 2023, In: JBMR Plus. 7, 4, e10717.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype
Ma, N. S., Mumm, S., Takahashi, S. & Levine, M. A., Feb 2023, In: Current Osteoporosis Reports. 21, 1, p. 85-94 10 p.Research output: Contribution to journal › Review article › peer-review
Open Access8 Scopus citations