Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

por Wan, Aliete, Place, Emily, Pierce, Eric A., Comander, Jason
Publicado 2019

Improving the statistical detection of regulated genes from microarray data using intensity-based variance estimation

por Comander, Jason, Natarajan, Sripriya, Gimbrone, Michael A, García-Cardeña, Guillermo
Publicado 2004

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

por Bujakowska, Kinga M., White, Joseph, Place, Emily, Consugar, Mark, Comander, Jason
Publicado 2015

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

por Stanwyck, Lynn K., Place, Emily M., Comander, Jason, Huckfeldt, Rachel M., Sobrin, Lucia
Publicado 2019

Tauroursodeoxycholic Acid (TUDCA) Protects Photoreceptors from Cell Death after Experimental Retinal Detachment

por Mantopoulos, Dimosthenis, Murakami, Yusuke, Comander, Jason, Thanos, Aristomenis, Roh, Miin, Miller, Joan W., Vavvas, Demetrios G.
Publicado 2011

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

por Ballios, Brian G., Place, Emily M., Martinez-Velazquez, Luis, Pierce, Eric A., Comander, Jason I., Huckfeldt, Rachel M.
Publicado 2021

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa

por Comander, Jason, Weigel-DiFranco, Carol, Maher, Matthew, Place, Emily, Wan, Aliete, Harper, Shyana, Sandberg, Michael A., Navarro-Gomez, Daniel, Pierce, Eric A.
Publicado 2017

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

por Comander, Jason, Weigel DiFranco, Carol, Sanderson, Kit, Place, Emily, Maher, Matthew, Zampaglione, Erin, Zhao, Yan, Huckfeldt, Rachel M., Bujakowska, Kinga M., Pierce, Eric
Publicado 2023

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA

por Men, Clara J., Bujakowska, Kinga M., Comander, Jason, Place, Emily, Bedoukian, Emma C., Zhu, Xiaosong, Leroy, Bart P., Fulton, Anne B., Pierce, Eric A.
Publicado 2017

Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses

por Levy, Jonathan M., Yeh, Wei-Hsi, Pendse, Nachiket, Davis, Jessie R., Hennessey, Erin, Butcher, Rossano, Koblan, Luke W., Comander, Jason, Liu, Qin, Liu, David R.
Publicado 2020

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum

por Huckfeldt, Rachel M., Grigorian, Florin, Place, Emily, Comander, Jason I., Vavvas, Demetrios, Young, Lucy H., Yang, Paul, Shurygina, Maria, Pierce, Eric A., Pennesi, Mark E.
Publicado 2020

Structure-based network analysis predicts mutations associated with inherited retinal disease

por Hauser, Blake M., Luo, Yuyang, Nathan, Anusha, Gaiha, Gaurav D., Vavvas, Demetrios, Comander, Jason, Pierce, Eric A., Place, Emily M., Bujakowska, Kinga M., Rossin, Elizabeth J.
Publicado 2023

NOD2 genetic variants and sarcoidosis-associated uveitis()

por Davoudi, Samaneh, Navarro-Gomez, Daniel, Shen, Lishuang, Ung, Cindy, Ren, Aiai, Sullivan, Lynn, Kwong, Mindy, Janessian, Maria, Comander, Jason, Gai, Xiaowu, Lobo, Ann-Marie, Papaliodis, George N., Sobrin, Lucia
Publicado 2016

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

por Zampaglione, Erin, Kinde, Benyam, Place, Emily M., Navarro-Gomez, Daniel, Maher, Matthew, Jamshidi, Farzad, Nassiri, Sherwin, Mazzone, J. Alex, Finn, Caitlin, Schlegel, Dana, Comander, Jason, Pierce, Eric A., Bujakowska, Kinga M.
Publicado 2020

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

por Gold, Nina B., Adelson, Sophia M., Shah, Nidhi, Williams, Shardae, Bick, Sarah L., Zoltick, Emilie S., Gold, Jessica I., Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy E., Walker, Melissa, Holtz, Alexander M., Sankaran, Vijay G., Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid A., Thiagarajah, Jay R., Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert C.
Publicado 2023