Effects of Artisan aphakic intraocular lens on central corneal thickness and intra ocular pressure in pediatric eyes with crystalline subluxated lenses

Por Zafar, Saemah Nuzhat, Siddiqui, Sorath Noorani, Khan, Ayesha
Publicado em 2013

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Por Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Iqbal, Aftab, Khan, Muhammad Imran, den Hollander, Anneke I.
Publicado no PLoS One (2016)

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome

Por Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Venselaar, Hanka, Qamar, Raheel, Khan, Muhammad Imran, den Hollander, Anneke I.
Publicado no Neurogenetics (2015)

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma

Por Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Villanueva-Mendoza, Cristina, Cortés-González, Vianney, Khan, Muhammad Imran, den Hollander, Anneke I.
Publicado no PLoS One (2016)

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

Por Keser, Vafa, Khan, Ayesha, Siddiqui, Sorath, Lopez, Irma, Ren, Huanan, Qamar, Raheel, Nadaf, Javad, Majewski, Jacek, Chen, Rui, Koenekoop, Robert K.
Publicado no Invest Ophthalmol Vis Sci (2017)

Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma

Por Micheal, Shazia, Ayub, Humaira, Islam, Farrah, Siddiqui, Sorath Noorani, Khan, Wajid Ali, Akhtar, Farah, Qamar, Raheel, Khan, Muhammad Imran, den Hollander, Anneke I.
Publicado no PLoS One (2015)

Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Por Zaneveld, Jacques, Siddiqui, Sorath, Li, Huajin, Wang, Xia, Wang, Hui, Wang, Keqing, Li, Hui, Ren, Huanan, Lopez, Irma, Dorfman, Allison, Khan, Ayesha, Wang, Feng, Salvo, Jason, Gelowani, Violet, Li, Yumei, Sui, Ruifang, Koenekoop, Robert, Chen, Rui
Publicado no Genet Med (2014)

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Por Zhang, Alice Yang, Mysore, Naveen, Vali, Hojatollah, Koenekoop, Jamie, Cao, Sang Ni, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Siddiqui, Sorath Noorani, Khan, Ayesha, Mui, Jeannie, Sears, Kelly, Dixon, Jim, Schwartzentruber, Jeremy, Majewski, Jacek, Braverman, Nancy, Koenekoop, Robert K.
Publicado no Invest Ophthalmol Vis Sci (2015)

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Por Wang, Xia, Wang, Hui, Sun, Vincent, Tuan, Han-Fang, Keser, Vafa, Wang, Keqing, Ren, Huanan, Lopez, Irma, Zaneveld, Jacques E, Siddiqui, Sorath, Bowles, Stephanie, Khan, Ayesha, Salvo, Jason, Jacobson, Samuel G, Iannaccone, Alessandro, Wang, Feng, Birch, David, Heckenlively, John R, Fishman, Gerald A, Traboulsi, Elias I, Li, Yumei, Wheaton, Dianna, Koenekoop, Robert K, Chen, Rui
Publicado em 2013

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Por Maria, Maleeha, Ajmal, Muhammad, Azam, Maleeha, Waheed, Nadia Khalida, Siddiqui, Sorath Noorani, Mustafa, Bilal, Ayub, Humaira, Ali, Liaqat, Ahmad, Shakeel, Micheal, Shazia, Hussain, Alamdar, Shah, Syed Tahir Abbas, Ali, Syeda Hafiza Benish, Ahmed, Waqas, Khan, Yar Muhammad, den Hollander, Anneke I., Haer-Wigman, Lonneke, Collin, Rob W. J., Khan, Muhammad Imran, Qamar, Raheel, Cremers, Frans P. M.
Publicado no PLoS One (2015)

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Por Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Beatriz-Buentello-Volante, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui
Publicado em 2013