Stone, Kelly D.

Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions

Ombrello, M. J., Remmers, E. F., Sun, G., Freeman, A. F., Datta, S., Torabi-Parizi, P., Subramanian, N., Bunney, T. D., Baxendale, R. W., Martins, M. S., et al. (2012) · New England Journal of Medicine

Immunodeficiency and Autoimmune DisordersInflammasome and immune disorders

Cited by 425

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Lyons, J. J., Yu, X., Hughes, J. D., Le, Q. T., Jamil, A., Bai, Y., Ho, N., Zhao, M., Liu, Y., O'Connell, M. P., et al. (2016) · Nature Genetics

Mast cells and histamineGastrointestinal motility and disorders

Cited by 394

Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

Lyons, J. J., Sun, G., Stone, K. D., Nelson, C., Wisch, L., O'Brien, M., Jones, N., Lindsley, A., Komarow, H. D., Bai, Y., et al. (2014) · Journal of Allergy and Clinical Immunology

Mast cells and histamineAsthma and respiratory diseases

Cited by 136

Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation

Siegel, A. M., Stone, K. D., Cruse, G., Lawrence, M. G., Olivera, A., Jung, M.-Y., Barber, J. S., Freeman, A. F., Holland, S. M., O'Brien, M., et al. (2013) · Journal of Allergy and Clinical Immunology

Immunodeficiency and Autoimmune DisordersMast cells and histamine

Cited by 131

A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number

Lyons, J. J., Stotz, S. C., Chovanec, J., Liu, Y., Lewis, K. L., Nelson, C., DiMaggio, T., Jones, N., Stone, K. D., Sung, H., et al. (2018) · Genetics in Medicine

Ion channel regulation and functionGenetic Associations and Epidemiology

Cited by 30