Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model

Por Sahu, Bhubanananda, Chavali, Venkata R.M., Alapati, Akhila, Suk, John, Bartsch, Dirk-Uwe, Jablonski, Monica M., Ayyagari, Radha
Publicado no Mol Vis (2015)

Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss

Por Alapati, Akhila, Goetz, Kerry, Suk, John, Navani, Mili, Al-Tarouti, Amani, Jayasundera, Thiran, Tumminia, Santa J., Lee, Pauline, Ayyagari, Radha
Publicado em 2014

A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

Por Ramkumar, Hema L., Gudiseva, Harini V., Kishaba, Kameron T., Suk, John J., Verma, Rohan, Tadimeti, Keerti, Thorson, John A., Ayyagari, Radha
Publicado no Genet Test Mol Biomarkers (2017)

Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Por Gustafson, Kevin, Duncan, Jacque L., Biswas, Pooja, Soto-Hermida, Angel, Matsui, Hiroko, Jakubosky, David, Suk, John, Telenti, Amalio, Frazer, Kelly A., Ayyagari, Radha
Publicado no Genes (Basel) (2017)

Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. G...

Por Gustafson, Kevin, Duncan, Jacque L., Biswas, Pooja, Soto-Hermida, Angel, Matsui, Hiroko, Jakubosky, David, Suk, John, Telenti, Amalio, Frazer, Kelly A., Ayyagari, Radha
Publicado no Genes (Basel) (2017)

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Por Maranhao, Bruno, Biswas, Pooja, Gottsch, Alexander D. H., Navani, Mili, Naeem, Muhammad Asif, Suk, John, Chu, Justin, Khan, Sheen N., Poleman, Rachel, Akram, Javed, Riazuddin, Sheikh, Lee, Pauline, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Ayyagari, Radha
Publicado no PLoS One (2015)

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing

Por Branham, Kari, Matsui, Hiroko, Biswas, Pooja, Guru, Aditya A., Hicks, Michael, Suk, John J., Li, He, Jakubosky, David, Long, Tao, Telenti, Amalio, Nariai, Naoki, Heckenlively, John R., Frazer, Kelly A., Sieving, Paul A., Ayyagari, Radha
Publicado no Physiol Genomics (2016)

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Por Biswas, Pooja, Duncan, Jacque L., Maranhao, Bruno, Kozak, Igor, Branham, Kari, Gabriel, Luis, Lin, Jonathan H., Barteselli, Giulio, Navani, Mili, Suk, John, Parke, Michelle, Schlechter, Catherine, Weleber, Richard G., Heckenlively, John R., Dagnelie, Gislin, Lee, Pauline, Riazuddin, S. Amer, Ayyagari, Radha
Publicado no Physiol Genomics (2017)