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

por Boczek, Nicole J., Macke, Erica L., Kemppainen, Jennifer, Klee, Eric W., Renaud, Deborah L., Gavrilova, Ralitza H.
Publicado 2020

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

por Macke, Erica L., Morales-Rosado, Joel A., Gupta, Aditi, Schmitz, Christopher T., Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric W.
Publicado 2020

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

por Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Publicado 2020

Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy

por Mezu-Ndubuisi, Olachi J., Macke, Erica L., Kalavacherla, Raja, Nwaba, Amy Amanda, Suscha, Andrew, Zaitoun, Ismail S., Ikeda, Akihiro, Sheibani, Nader
Publicado 2020

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

por Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.
Publicado 2022

Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice

por Macke, Erica L., Henningsen, Erika, Jessen, Erik, Zumwalde, Nicholas A., Landowski, Michael, Western, Daniel E., Lee, Wei-Hua, Liu, Che, Gruenke, Nathan P., Doebley, Anna-Lisa, Miller, Samuel, Pattnaik, Bikash, Ikeda, Sakae, Gumperz, Jenny E., Ikeda, Akihiro
Publicado 2020

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

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

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

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