Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter

by Ma, Xiaoyin, Jiao, Xiaodong, Ma, Zhiwei, Hejtmancik, J. Fielding
Published 2016

Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations

by Li, Lin, Xiao, Xueshan, Li, Shiqiang, Jiao, Xiaodong, Hejtmancik, J. Fielding, Zhang, Qingjiong
Published 2011

CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies

by Cao, Dan, Jiao, Xiaodong, Liu, Xing, Hennis, Anselm, Leske, M. Cristina, Nemesure, Barbara, Hejtmancik, J. Fielding
Published 2012

Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract

by Bennett, Thomas M., Maraini, Giovanni, Jin, Chongfei, Sun, Wenmin, Hejtmancik, J. Fielding, Shiels, Alan
Published 2013

Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia

by Jiao, Xiaodong, Wang, Panfeng, Li, Shiqiang, Li, Anren, Guo, Xiangming, Zhang, Qingjiong, Hejtmancik, J. Fielding
Published 2012

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

by Rossi, Settimio, Testa, Francesco, Li, Anren, Yaylacioğlu, Fulya, Gesualdo, Carlo, Hejtmancik, J Fielding, Simonelli, Francesca
Published 2013

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome

by Xue, Min, Zheng, Jie, Zhou, Qing, Hejtmancik, J. Fielding, Wang, Yuan, Li, Shouling
Published 2015

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

by Li, Lin, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Guo, Xiangming, Jiao, Xiaodong, Zhang, Qingjiong, Hejtmancik, J. Fielding
Published 2011

Functional Validation of Hydrophobic Adaptation to Physiological Temperature in the Small Heat Shock Protein αA-crystallin

by Posner, Mason, Kiss, Andor J., Skiba, Jackie, Drossman, Amy, Dolinska, Monika B., Hejtmancik, J. Fielding, Sergeev, Yuri V.
Published 2012

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected with Congenital Progressive Punctate Cataract

by Ding, Xuchen, Zhou, Nan, Lin, Hui, Chen, Jianjun, Zhao, Chunyuan, Zhou, Guangkai, Hejtmancik, J. Fielding, Qi, Yanhua
Published 2014

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa

by Ali, Shahbaz, Riazuddin, S. Amer, Shahzadi, Amber, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Published 2011

Spatial expression patterns of autophagy genes in the eye lens and induction of autophagy in lens cells

by Brennan, Lisa Ann, Kantorow, Wanda Lee, Chauss, Daniel, McGreal, Rebecca, He, Shuying, Mattucci, Lyndzie, Wei, Jianning, Riazuddin, S. Amer, Cvekl, Ales, Hejtmancik, J. Fielding, Kantorow, Marc
Published 2012

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

by Li, David, Jin, Chongfei, Jiao, Xiaodong, Li, Lin, Bushra, Tahmina, Naeem, Muhammad Asif, Butt, Nadeem H., Husnain, Tayyab, Sieving, Paul A., Riazuddin, Sheikh, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Published 2014

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

by Kabir, Firoz, Naz, Shagufta, Riazuddin, S. Amer, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Published 2013

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

by Jiao, Xiaodong, Kabir, Firoz, Irum, Bushra, Khan, Arif O., Wang, Qiwei, Li, David, Khan, Asma A., Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published 2016

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

by Jiaox, Xiaodong, Khan, Shahid Y., Irum, Bushra, Khan, Arif O., Wang, Qiwei, Kabir, Firoz, Khan, Asma A., Husnain, Tayyab, Akram, Javed, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published 2015

Differentiation State-Specific Mitochondrial Dynamic Regulatory Networks Are Revealed by Global Transcriptional Analysis of the Developing Chicken Lens

by Chauss, Daniel, Basu, Subhasree, Rajakaruna, Suren, Ma, Zhiwei, Gau, Victoria, Anastas, Sara, Brennan, Lisa A., Hejtmancik, J. Fielding, Menko, A. Sue, Kantorow, Marc
Published 2014

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

by Khan, Shahid Y., Ali, Shahbaz, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Butt, Nadeem H., Qazi, Zaheeruddin A., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published 2015

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

by Kabir, Firoz, Ullah, Inayat, Ali, Shahbaz, Gottsch, Alexander D.H., Naeem, Muhammad Asif, Assir, Muhammad Zaman, Khan, Shaheen N., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Published 2016

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

by 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
Published 2015