Contact
233 S. 10th Street
Room 431
Philadelphia, PA 19107
Highlighted Publications
Huang, Jianhe, Ralph, Douglas, Boraldi, Federica, Quaglino, Daniela, Uitto, Jouni, Li, Qiaoli. 2022. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. Journal of Investigative Dermatology, Volume 142, Issue 8, 2022, Pages 2140-2148.e1, ISSN 0022-202X,
Ralph D., van de Wetering K., Uitto J., Li Q. Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification (2022). American Journal of Pathology, 192 (5), pp. 762 - 770.
Ralph D., Nitschke Y., Levine M.A., Caffet M., Wurst T., Saeidian A.H., Youssefian L., Vahidnezhad H., Terry S.F., Rutsch F., Uitto J., Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification (2022) PLoS Genetics, 18 (4), art. no. e1010192
Kowal L., Huang J., Luo H., Singh J., Snook A.E., Uitto J., Li Q. Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder (2022) Journal of Investigative Dermatology, 142 (4), pp. 1085 - 1093.
Saeidian A.H., Youssefian L., Huang J., Touati A., Vahidnezhad H., Kowal L., Caffet M., Wurst T., Singh J., Snook A.E., Ryu E., Fortina P., Terry S.F., Schoenecker J.G., Uitto J., Li Q. Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort (2022) Genetics in Medicine, 24 (1), pp. 75 - 86
Publications
Scopus Feed has no publications.