Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

by Fady Hannah-Shmouni, Lauren MacNeil, Irene Lara-Corrales, Elena Pope, Peter Kannu, Neal Sondheimer
Published 2019-12-01

Polyomavirus-associated Trichodysplasia spinulosa involves hyperproliferation, pRB phosphorylation and upregulation of p16 and p21.

by Siamaque Kazem, Els van der Meijden, Richard C Wang, Arlene S Rosenberg, Elena Pope, Taylor Benoit, Philip Fleckman, Mariet C W Feltkamp
Published 2014-01-01

Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilo...

by Suzanne C. Li, Robert C. Fuhlbrigge, Ronald M. Laxer, Elena Pope, Maria F. Ibarra, Katie Stewart, Thomas Mason, Mara L. Becker, Sandy Hong, Fatma Dedeoglu, Kathryn S. Torok, C. Egla Rabinovich, Polly J. Ferguson, Marilynn Punaro, Brian M. Feldman, Tracy Andrews, Gloria C. Higgins, For the CARRA Registry Investigators
Published 2019-07-01