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)

Transcriptome Analysis of Orbital Adipose Tissue in Active Thyroid Eye Disease Using Next Generation RNA Sequencing Technology

Por Lee, Bradford W., Kumar, Virender B., Biswas, Pooja, Ko, Audrey C., Alameddine, Ramzi M., Granet, David B., Ayyagari, Radha, Kikkawa, Don O., Korn, Bobby S.
Publicado no Open Ophthalmol J (2018)

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

Por Biswas, Pooja, Duncan, Jacque L, Ali, Muhammad, Matsui, Hiroko, Naeem, Muhammad Asif, Raghavendra, Pongali B, Frazer, Kelly A, Arts, Heleen H, Riazuddin, Sheikh, Akram, Javed, Hejtmancik, J Fielding, Riazuddin, S Amer, Ayyagari, Radha
Publicado no Hum Mol Genet (2017)

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration

Por Duncan, Jacque L., Biswas, Pooja, Kozak, Igor, Navani, Mili, Syed, Reema, Soudry, Shiri, Menghini, Moreno, Caruso, Rafael C., Jeffrey, Brett G., Heckenlively, John R., Reddy, G. Bhanuprakash, Lee, Pauline, Roorda, Austin, Ayyagari, Radha
Publicado no Ophthalmic Genet (2014)

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)

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration

Por Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L., Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S., Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G. Bhanuprakash, Hejtmancik, J. Fielding, Georgiou, George, Riazuddin, S. Amer, Ayyagari, Radha
Publicado no Hum Mol Genet (2016)