Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

by Nicole J. Boczek, Erica L. Macke, Jennifer Kemppainen, Eric W. Klee, Deborah L. Renaud, Ralitza H. Gavrilova
Published 2020-10-01

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

by Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee
Published 2020-09-01

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

by Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Published 2021-07-01

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

by Wei-Hua Lee, Hitoshi Higuchi, Sakae Ikeda, Erica L Macke, Tetsuya Takimoto, Bikash R Pattnaik, Che Liu, Li-Fang Chu, Sandra M Siepka, Kathleen J Krentz, C Dustin Rubinstein, Robert F Kalejta, James A Thomson, Robert F Mullins, Joseph S Takahashi, Lawrence H Pinto, Akihiro Ikeda
Published 2016-11-01