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J. Hejtmancik · SciRah

Researcher profile · Semantic Scholar

J. Hejtmancik

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J. Hejtmancik — researcher profile on SciRah

h-index: 45
Works: 239
Citations: 11K

Most-cited papers

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
D. Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, M. Abdellatif +496 more
2021Autophagy4,016 citations Open access
Semantic Scholar
Inherited Cataracts: Genetic Mechanisms and Pathways New and Old
A. Shiels, J. Hejtmancik
2021Experimental Eye Research90 citations Open access
Semantic Scholar
SIRT1 Inhibits High Glucose–Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation
Li-Li Lian, Zhen-Min Le, Zhenzhen Wang, Ying-ao Chen +6 more
2023Investigative Ophthalmology and Visual Science65 citations Open access
Semantic Scholar
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening
Jianjun Chen, Qiwei Wang, Patricia E. Cabrera, Z. Zhong +14 more
2017Investigative Ophthalmology and Visual Science61 citations Open access
Semantic Scholar
MITF protects against oxidative damage-induced retinal degeneration by regulating the NRF2 pathway in the retinal pigment epithelium
Shuxian Han, Jian-Jun Chen, Jia-Jia Hua, Xiaojuan Hu +9 more
2020Redox Biology46 citations Open access
Semantic Scholar
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
Lin Li, Ya-Bin Chen, Xiao-Dong Jiao, C. Jin +21 more
2017Investigative Ophthalmology and Visual Science46 citations Open access
Semantic Scholar
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1
S. Y. Khan, S. Vasanth, Firoz Kabir, J. Gottsch +16 more
2016Nature Communications42 citations Open access
Semantic Scholar
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing
B. Maranhao, P. Biswas, Alexander D. H. Gottsch, Mili Navani +11 more
2015PLoS ONE39 citations Open access
Semantic Scholar
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts
Xiaodong Jiaox, S. Y. Khan, Bushra Irum, Arif O. Khan +8 more
2015PLoS ONE38 citations Open access
Semantic Scholar
Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter
Xiao-Yin Ma, Xiao-Dong Jiao, Zhi-Wei Ma, J. Hejtmancik
2016Scientific Reports32 citations Open access
Semantic Scholar
Autophagy Requirements for Eye Lens Differentiation and Transparency
Lisa A. Brennan, M. Costello, J. Hejtmancik, A. Menko +3 more
2023Cells27 citations Open access
Semantic Scholar
The role of FYCO1-dependent autophagy in lens fiber cell differentiation
S. Y. Khan, M. Ali, Firoz Kabir, C. Na +6 more
2022Autophagy25 citations Open access
Semantic Scholar
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
P. Biswas, Adda L. Villanueva, A. Soto-Hermida, J. Duncan +26 more
2021PLoS Genetics25 citations Open access
Semantic Scholar
Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts
S. Rowan, Shu-Hong Jiang, Sarah G. Francisco, L. C. Pomatto +13 more
2021Investigative Ophthalmology and Visual Science24 citations Open access
Semantic Scholar
Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells
Zhi-Wei Ma, Wen-Liang Yao, Chi-Chao Chan, C. Kannabiran +2 more
2016Biochimica et Biophysica Acta24 citations Open access
Semantic Scholar
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families
S. Y. Khan, Shahbaz Ali, M. Naeem, Shaheen N. Khan +8 more
2015Molecular Vision24 citations
Semantic Scholar
Lysyl Oxidase–Like 1 Gene in the Reversal of Promoter Risk Allele in Pseudoexfoliation Syndrome
S. Dubey, J. Hejtmancik, S. Krishnadas, R. Sharmila +2 more
2014JAMA ophthalmology24 citations
Semantic Scholar
LncRNA NEAT1 Recruits SFPQ to Regulate MITF Splicing and Control RPE Cell Proliferation
Xiaojuan Hu, Fang Li, Junhao He, Juan Yang +7 more
2021Investigative Ophthalmology and Visual Science22 citations Open access
Semantic Scholar
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
Yi Jiang, Xueshan Xiao, Wenmin Sun, Ying-Wei Wang +5 more
2024Journal of Translational Medicine20 citations Open access
Semantic Scholar
Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
Jing-Jing Jiang, Xiaofei Wu, Di Shen, Li-Jin Dong +3 more
2017Scientific Reports18 citations Open access
Semantic Scholar
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
Firoz Kabir, Inayat Ullah, Shahbaz Ali, Alexander D. H. Gottsch +8 more
2016Molecular Vision18 citations
Semantic Scholar
Mutations in FYCO1 identified in families with congenital cataracts
Hira Iqbal, S. Y. Khan, Lin Zhou, Bushra Irum +8 more
2020Molecular Vision17 citations
Semantic Scholar
Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways
Xiao-Yin Ma, Zhi-Wei Ma, Xiao-Dong Jiao, J. Hejtmancik
2017Scientific Reports16 citations Open access
Semantic Scholar
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes
Yuxiang Zheng, Pan-Feng Wang, Shi-qiang Li, Yuxi Long +9 more
2024Brain : a journal of neurology15 citations Open access
Semantic Scholar
A mutation in IFT43 causes non-syndromic recessive retinal degeneration
P. Biswas, J. Duncan, M. Ali, H. Matsui +9 more
2017Human Molecular Genetics15 citations Open access
Semantic Scholar
Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation
Joshua Disatham, Lisa A. Brennan, Xiao-Dong Jiao, Zhi-Wei Ma +2 more
2022Epigenetics & Chromatin14 citations Open access
Semantic Scholar
Evaluation of Genetic Polymorphisms in Clusterin and Tumor Necrosis Factor-Alpha Genes in South Indian Individuals with Pseudoexfoliation Syndrome
S. Dubey, J. Hejtmancik, S. Krishnadas, R. Sharmila +2 more
2015Current Eye Research14 citations
Semantic Scholar
Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at ZFHX1B and SNTB1 in Han Chinese and European populations
Jia-Li Li, Xiao-Dong Jiao, Qing-Jiong Zhang, J. Hejtmancik
2017Molecular Vision13 citations
Semantic Scholar
A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts
Xiao-Dong Jiao, Firoz Kabir, Bushra Irum, Arif O. Khan +8 more
2016PLoS ONE13 citations Open access
Semantic Scholar
Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract
T. Bennett, G. Maraini, C. Jin, Wenmin Sun +2 more
2013Molecular Vision12 citations
Semantic Scholar
Oxidative Stress in Genetic Cataract Formation
J. Hejtmancik
2024Antioxidants11 citations Open access
Semantic Scholar
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
Ying-Wei Wang, Wenmin Sun, Xueshan Xiao, Yi Jiang +8 more
2023Investigative Ophthalmology and Visual Science11 citations Open access
Semantic Scholar
The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia
Yi Jiang, Lin Zhou, Ying-Wei Wang, Jiamin Ouyang +10 more
2023Investigative Ophthalmology and Visual Science11 citations Open access
Semantic Scholar
Genetic Architecture of Congenital Cataracts: Correlation of Pathogenic Variants with Morphology and Clinical Outcomes.
Dong-Wei Guo, Yi Jiang, Yuxiang Zheng, Shi-qiang Li +7 more
2025Progress in retinal and eye research10 citations
Semantic Scholar
Pathogenicity evaluation and the genotype–phenotype analysis of OPA1 variants
Xing Xu, Pan-Feng Wang, Xiao-yun Jia, Wenmin Sun +4 more
2021Zeitschrift für Induktive Abstammungs- und Vererbungslehre10 citations
Semantic Scholar
Clinical features of patients with mutations in genes for nanophthalmos
Xueqing Li, Hua-Bing Xiao, Yihua Su, Xueshan Xiao +10 more
2024British Journal of Ophthalmology9 citations
Semantic Scholar
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness
M. Naeem, Alexander D. H. Gottsch, Inayat Ullah, Shaheen N. Khan +8 more
2015Molecular Vision9 citations
Semantic Scholar
AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration
David Li, C. Jin, Xiao-Dong Jiao, Lin Li +8 more
2014Molecular Vision9 citations
Semantic Scholar
Patterns of Crystallin Gene Expression in Differentiation State Specific Regions of the Embryonic Chicken Lens
Zhi-Wei Ma, Daniel Chauss, Joshua Disatham, Xiao-Dong Jiao +4 more
2022Investigative Ophthalmology and Visual Science8 citations Open access
Semantic Scholar
Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts
Xiao-Dong Jiao, M. Viswanathan, N. Bobrova, T. Romanova +1 more
2022Children8 citations Open access
Semantic Scholar
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes
M. Ali, S. Y. Khan, T. Rodrigues, T. Francisco +21 more
2021Human Genetics8 citations
Semantic Scholar
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Samantha Malka, P. Biswas, Anne-Marie Berry, Riccardo Sangermano +42 more
2024American Journal of Human Genetics7 citations Open access
Semantic Scholar
Truncation mutations in MYRF underlie primary angle closure glaucoma
Jiamin Ouyang, Wenmin Sun, Huang-Xuan Shen, Xing Liu +10 more
2022Human Genetics7 citations Open access
Semantic Scholar
A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation
Yun Wang, Lan Lu, Daren Zhang, Yue-Qiu Tan +6 more
2020Eye7 citations Open access
Semantic Scholar
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
Firoz Kabir, S. Naz, S. Riazuddin, M. Naeem +6 more
2013Molecular Vision7 citations
Semantic Scholar
ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype
Ying-Wei Wang, Pan-Feng Wang, Zhen Yi, Jiamin Ouyang +7 more
2025Investigative Ophthalmology and Visual Science6 citations
Semantic Scholar
Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma
Long-Xiang Huang, Tingting Xu, Jiahe Gan, Yu-Kai Mao +9 more
2023Journal of glaucoma6 citations
Semantic Scholar
Bietti’s crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials
Qian Li, Cong Wang, Sheng-Juan Zhang, Zhong-Jie Fu +4 more
2023British Journal of Ophthalmology6 citations
Semantic Scholar
A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury
Zhi-Wei Ma, Xiao-Dong Jiao, M. Agbaga, R. E. Anderson +4 more
2022International Journal of Molecular Sciences6 citations Open access
Semantic Scholar
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma
Bushra Rauf, S. Y. Khan, Xiao-Dong Jiao, Bushra Irum +8 more
2022Scientific Reports6 citations Open access
Semantic Scholar

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Shaheen N. Khan×7

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