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Office
1920 E Cambridge Ave
Rosenberg Childrens Medical Plaza Suite 304
Phoenix, AZ 85006Phone+1 602-933-0863
Summary
- Dr. Brianna Pruniski, MD is a medical geneticist in Phoenix, Arizona.
Publications & Presentations
PubMed
- 36 citationsTruncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J. M. Dingemans, Sarah J. Goodman, Michelle T. Siu
American Journal of Human Genetics. 2021-06-03 - 5 citationsITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.Ange Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia C. Willing
European Journal of Human Genetics. 2021-10-28 - 11 citationsKCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.Yongqiang Zhang, Georgios Tachtsidis, Claudia Schob, Mahmoud Koko, Ulrike B. S. Hedrich
Human Molecular Genetics. 2021-07-10
