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ARVO Annual Meeting Abstract July 2018

Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

Radha Ayyagari; Pooja Biswas; Angel Soto Hermida; Kari E Branham; Hiroko Matsui; Adda L Villanueva; Amalio Talenti; Akhila Alapati; Aditya Ayyagari Guru; Bonnie Huang; Sheikh Riazuddin; John Heckenlively; Paul Sieving; Jacque L Duncan; S Amer Riazuddin; Kelly A. Frazer

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4468. doi:

ARVO Annual Meeting Abstract July 2018

A homozygous mutation in the novel gene ARFGAP2 is associated with non-syndromic recessive inherited retinal degeneration (IRD).

Pooja Biswas; Anil Kumar Chekuri; Jason Ear; Shyamanga Borooah; Hiroko Matsui; Matteo D'Antonio; Kelly A. Frazer; Sindhura Devalaraja; Shahid Yar Khan; Muhammad Asif Naeem; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; Pradipta Ghosh; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5383. doi:

Cornea May 2018

Generation and Proteome Profiling of PBMC-Originated, iPSC-Derived Corneal Endothelial Cells

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Muhammad Ali; Shahid Y. Khan; Shivakumar Vasanth; Mariya R. Ahmed; Ruiqiang Chen; Chan Hyun Na; Jason J. Thomson; Caihong Qiu; John D. Gottsch; S. Amer Riazuddin
TAGS: polymerase chain reaction, cryopreservation, proteome, cornea, chronic exertional compartment syndrome, peripheral blood mononuclear cell
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2437-2444. doi: 10.1167/iovs.17-22927

Includes: Supplemental Content

Lens January 2018

Proteome Profiling of Developing Murine Lens Through Mass Spectrometry

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Shahid Y. Khan; Muhammad Ali; Firoz Kabir; Santosh Renuse; Chan Hyun Na; C. Conover Talbot, Jr; Sean F. Hackett; S. Amer Riazuddin
TAGS: lens, crystalline, lens (device), proteome, mass spectrometry, mice, proteins
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):100-107. doi: 10.1167/iovs.17-21601

Includes: Supplemental Content

Cornea December 2017

CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy

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Allen O. Eghrari; Sina Vahedi; Natalie A. Afshari; S. Amer Riazuddin; John D. Gottsch
TAGS: cohort studies, hereditary corneal dystrophy, racial group, genetics, african american, self-report
Invest. Ophthalmol. Vis. Sci.. 2017; 58(14):6046-6049. doi: 10.1167/iovs.17-21661

ARVO Annual Meeting Abstract June 2017

Investigating the role of pexophagy in the development of the ocular lens and cataractogenesis

Muhammad Ali; Shahid Yar Khan; Firoz Kabir; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2042. doi:

ARVO Annual Meeting Abstract June 2017

CTG18.1 trinucleotride repeat expansion in African-Americans with Fuchs Corneal Dystrophy

Sina Vahedi; Shivakumar Vasanth; S Amer Riazuddin; John Gottsch; Allen O Eghrari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1439. doi:

ARVO Annual Meeting Abstract June 2017

Investigating the Proteome of the ocular lens at multiple developmental time points through mass spectrometry-based protein sequencing

Shahid Yar Khan; Muhammad Ali; Chan-Hyun Na; Akhilesh Pandey; Sean Hackett; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1719. doi:

ARVO Annual Meeting Abstract June 2017

Involvement of the novel gene IFT43 in causing early onset non-syndromic retinal degeneration.

Pooja Biswas; Jacque L. Duncan; Muhammad Ali; Muhammad Asif Naeem; S. Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3821. doi:

Genetics May 2017

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

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Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E. Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N. Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A. Sieving; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: mutation, family, genes, homozygote, autosomal recessive inheritance, genetic analysis, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. doi: 10.1167/iovs.17-21424

Includes: Supplemental Content

Genetics April 2017

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

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Jianjun Chen; Qiwei Wang; Patricia E. Cabrera; Zilin Zhong; Wenmin Sun; Xiaodong Jiao; Yabin Chen; Gowthaman Govindarajan; Muhammad Asif Naeem; Shaheen N. Khan; Muhammad Hassaan Ali; Muhammad Zaman Assir; Fawad Ur Rahman; Zaheeruddin A. Qazi; Sheikh Riazuddin; Javed Akram; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: genetics, molecular, mutation, cataract, family, genes, homozygote, autosomal recessive inheritance, screening, congenital cataract
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2207-2217. doi: 10.1167/iovs.17-21469

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Functional Dissection Shows FOXE3 Contributes to Peters Anomaly through the Transcriptional Regulation of an Autophagy Associated Co-Chaperone, DNAJB1

Shahid Yar Khan; Shivakumar Vasanth; Firoz Kabir; Arif O. Khan; Zhiwei Ma; Sheikh Riazuddin; Nader Pourmand; Norann A Zaghloul; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Functional Assessment of FYCO1 Underlines the Association with Autophagy and Confirms the Indispensable Role in Lens Development

Firoz Kabir; Shahid Yar Khan; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family.

Kameron Kishaba; Pooja Biswas; John Suk; Inayat Ullah; Muhammad Asif Naeem; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3137. doi:

ARVO Annual Meeting Abstract September 2016

Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family.

Aditya A Guru; Pooja Biswas; John Suk; Kameron Kishaba; Inayat Ullah; Muhammad Asif Naeem; Sheikh Riazuddin; S Amer Riazuddin; Radha Ayyagari; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3144. doi:

ARVO Annual Meeting Abstract September 2016

Zebrafish and Mouse Models with Mutations in the Novel Gene ASRGL1 Develop Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Pooja Biswas; Venkata R M Chavali; Naheed W Khan; John Suk; Melissa Homsher; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3149. doi:

ARVO Annual Meeting Abstract September 2016

Characterization of Fuchs Corneal Dystrophy phenotype in a TCF8 knock-in mouse model

John D Gottsch; Shivakumar Vasanth; Allen O Eghrari; Edwin Oh; S Amer Riazuddin; Nicholas Katsanis

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4826. doi:

Lens July 2015

Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing

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Shahid Y. Khan; Sean F. Hackett; Mei-Chong W. Lee; Nader Pourmand; C. Conover Talbot, Jr; S. Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(8):4919-4926. doi: 10.1167/iovs.14-16253

Includes: Supplemental Content

Cornea July 2015

Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy

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Shivakumar Vasanth; Allen O. Eghrari; Briana C. Gapsis; Jiangxia Wang; Nicolas F. Haller; Walter J. Stark; Nicholas Katsanis; S. Amer Riazuddin; John D. Gottsch
TAGS: alleles, cohort studies, hereditary corneal dystrophy, genotype, trinucleotide repeats, severity of illness
Invest. Ophthalmol. Vis. Sci.. 2015; 56(8):4531-4536. doi: 10.1167/iovs.14-16122

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Transcriptome Profiling of Developing Murine Lens through RNA Sequencing

Shahid Y Khan; Sean F Hackett; Mei-Chong Wendy Lee; C. Conover Talbot; Nader Pourmand; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4005. doi:

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Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

A homozygous mutation in the novel gene ARFGAP2 is associated with non-syndromic recessive inherited retinal degeneration (IRD).

Generation and Proteome Profiling of PBMC-Originated, iPSC-Derived Corneal Endothelial Cells

Proteome Profiling of Developing Murine Lens Through Mass Spectrometry

CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy

Investigating the role of pexophagy in the development of the ocular lens and cataractogenesis

CTG18.1 trinucleotride repeat expansion in African-Americans with Fuchs Corneal Dystrophy

Investigating the Proteome of the ocular lens at multiple developmental time points through mass spectrometry-based protein sequencing

Involvement of the novel gene IFT43 in causing early onset non-syndromic retinal degeneration.

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Functional Dissection Shows FOXE3 Contributes to Peters Anomaly through the Transcriptional Regulation of an Autophagy Associated Co-Chaperone, DNAJB1

Functional Assessment of FYCO1 Underlines the Association with Autophagy and Confirms the Indispensable Role in Lens Development

Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family.

Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family.

Zebrafish and Mouse Models with Mutations in the Novel Gene ASRGL1 Develop Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Characterization of Fuchs Corneal Dystrophy phenotype in a TCF8 knock-in mouse model

Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing

Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy

Transcriptome Profiling of Developing Murine Lens through RNA Sequencing

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