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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:

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:

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 June 2015

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Pooja Biswas; Venkata R M Chavali; Giulia Agnello; Jacque L Duncan; Muhammad Asif Naeem; Sheikh Riazuddin; James Fielding Hejtmancik; George Georgiou; S Amer Riazuddin; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4348. doi:

ARVO Annual Meeting Abstract June 2015

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous pedigree

Firoz Kabir; Xiaodong Jiao; Adam Ronchetti; Alexander Gottsch; Shaheen N khan; Tayyab Husnain; Sheikh Riazuddin; Duska J. Sidjanin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5598. doi:

ARVO Annual Meeting Abstract June 2015

A common ancestral mutation in CRYBB3 identified in multiple consanguineous pedigrees with congenital cataracts

Xiaodong Jiao; Firoz Kabir; Arif Khan; Qiwei Wang; David Li; Shaheen N khan; Tayyab Husnain; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2527. doi:

ARVO Annual Meeting Abstract April 2014

Transcriptional characterization of the nonsense allele of FOXE3 responsible for Peters anomaly

Shahid Y Khan; Arif O Khan; Mei-Chong W Lee; Zhiwei Ma; Sheikh Riazuddin; Robert N Cole; Nader Pourmand; James F Hejtmancik; John Dunnegan Gottach; Amer S Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6414. doi:

ARVO Annual Meeting Abstract June 2013

Identification of causative mutations in consanguineous pedigrees from Pakistan with recessive retinal degeneration by whole exome analysis

Pooja Biswas; Bruno Maranhao; Pauline Lee; John Suk; Mili Navani; Shahid Khan; Nadeem Butt; Sheikh Riazuddin; S. Amer Riazuddin; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3349. doi:

ARVO Annual Meeting Abstract June 2013

Functional characterization of a homozygous nonsense FOXE3 mutation that causes Peters anomaly in a consanguineous family

Arif Khan; Shahid Khan; Zhiwei Ma; Saleh Al-Mesfer; Shahira Al Turkmani; Sheikh Riazuddin; Walter Stark; James Hejtmancik; John Gottsch; S. Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1352. doi:

ARVO Annual Meeting Abstract March 2012

FYCO1 Mutations And Function In Autosomal Recessive Congenital Cataract

James F. Hejtmancik; Jianjun Chen; Zhiwei Ma; Xiaodong Jiao; Wanda L. Kantorow; Eran Pras; Moshe Frydman; Sheikh Riazuddin; Marc Kantorow; S. Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1054. doi:

Retina March 2012

GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness

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Muhammad Asif Naeem; Venkata R. M. Chavali; Shahbaz Ali; Muhammad Iqbal; Saima Riazuddin; Shaheen N. Khan; Tayyab Husnain; Paul A. Sieving; Radha Ayyagari; Sheikh Riazuddin; J. Fielding Hejtmancik; S. Amer Riazuddin
TAGS: genome, autosomal recessive inheritance, night blindness, congenital stationary
Invest. Ophthalmol. Vis. Sci.. 2012; 53(3):1353-1361. doi: 10.1167/iovs.11-8026

Biochemistry and Molecular Biology July 2011

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

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Jianjun Chen; Nizar Smaoui; Monia Ben Hamed Hammer; Xiaodong Jiao; S. Amer Riazuddin; Shyana Harper; Nicholas Katsanis; Sheikh Riazuddin; Habiba Chaabouni; Eliot L. Berson; J. Fielding Hejtmancik
TAGS: mutation, family, genes
Invest. Ophthalmol. Vis. Sci.. 2011; 52(8):5317-5324. doi: 10.1167/iovs.11-7554

Includes: Supplemental Content

Biochemistry and Molecular Biology July 2005

Autosomal Recessive Retinitis Pigmentosa Is Associated with Mutations in RP1 in Three Consanguineous Pakistani Families

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S. Amer Riazuddin; Fareeha Zulfiqar; Qingjiong Zhang; Yuri V. Sergeev; Zaheeruddin A. Qazi; Tayyab Husnain; Rafael Caruso; Sheikh Riazuddin; Paul A. Sieving; J. Fielding Hejtmancik
TAGS: mutation, family, retinitis pigmentosa, proteins, autosomal recessive inheritance
Invest. Ophthalmol. Vis. Sci.. 2005; 46(7):2264-2270. doi: 10.1167/iovs.04-1280

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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).

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

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.

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous pedigree

A common ancestral mutation in CRYBB3 identified in multiple consanguineous pedigrees with congenital cataracts

Transcriptional characterization of the nonsense allele of FOXE3 responsible for Peters anomaly

Identification of causative mutations in consanguineous pedigrees from Pakistan with recessive retinal degeneration by whole exome analysis

Functional characterization of a homozygous nonsense FOXE3 mutation that causes Peters anomaly in a consanguineous family

FYCO1 Mutations And Function In Autosomal Recessive Congenital Cataract

GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

Autosomal Recessive Retinitis Pigmentosa Is Associated with Mutations in RP1 in Three Consanguineous Pakistani Families

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