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ARVO Annual Meeting Abstract June 2022

Single-nucleus multi-modal analysis of MFRP associated retinal degeneration

Shikha Pachauri; Kelsey Dang; Pooja Biswas; Anil Kumar Chekuri; Manisha Dagar; Anne Marie Berry; Berzhan Kurmanov; Ryan Lancione; Donita Garland; Sebastian Preissl; Allen Wang; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):7. doi:

ARVO Annual Meeting Abstract June 2022

Single Nucleus Multi-modal Analysis of the Aging Mouse Retina

Anne Marie Berry; Kelsey Dang; Pooja Biswas; Shikha Pachauri; Ryan Lancione; Manisha Dagar; Donita Garland; Sebastian Preissl; Allen Wang; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4. doi:

ARVO Annual Meeting Abstract June 2022

The role of the Complement pathway in L-ORD pathology caused by mutations in CTRP5.

Manisha Dagar; Anil Kumar Chekuri; Pooja Biswas; Shikha Pachauri; Donita Garland; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1949 – F0367. doi:

ARVO Annual Meeting Abstract June 2022

Proteome analysis of choroidal aging in wild type and L-ORD mouse models

Donita Garland; Manisha Dagar; Anil Kumar Chekuri; Pooja Biswas; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1912 – A0058. doi:

ARVO Annual Meeting Abstract June 2022

Htra1 KO mice develop severe photoreceptor loss and RPE abnormalities.

Pooja Biswas; Anne Marie Berry; Shikha Pachauri; Manisha Dagar; Naheed W Khan; Peter Shaw; Donita Garland; Monica M Jablonski; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1592 – A0381. doi:

ARVO Annual Meeting Abstract June 2021

Identification of causative mutations in ten pedigrees with inherited retinal degeneration by whole genome analysis (WGS)

Berzhan Kurmanov; Pooja Biswas; Bryan Lajoie; Hiroko Matsui; Jason Zhou; S. Amer Riazuddin; Jacque L Duncan; Kelly Frazer; Semyon Kruglyak; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1546. doi:

ARVO Annual Meeting Abstract June 2021

Identification of unique variants as the underlying cause of IRD in pedigrees that remained unresolved after initial whole genome sequence analysis.

Pooja Biswas; Berzhan Kurmanov; Karl Hong; Hiroko Matsui; Bryan Lajoie; Jason Zhou; Kelly Frazer; Semyon Kruglyak; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1523. doi:

ARVO Annual Meeting Abstract June 2020

Single cell genomic analysis to study the retinal cell type specific regulatory landscape of Mfrp-K O mice.

Pooja Biswas; Olivier Poirion; Anil Kumar Chekuri; Xiaomeng Hou; Qian Yang; Sebastian Preissl; Bing Ren; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2746. doi:

ARVO Annual Meeting Abstract July 2019

Detection and validation of the involvement of novel mutations in MERTK in recessive retinal degeneration using WGS and hiPSC-RPEs.

Pooja Biswas; Shyamanga Borooah; Marina voronchikhina; Hiroko Matsui; Karl J Wahlin; Kelly Frazer; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1757. 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 July 2018

Mutations in the novel gene IFT88 are involved in causing non-syndromic inherited retinal degeneration (IRD)

Anil Kumar Chekuri; Aditya Ayyagari Guru; Pooja Biswas; Kari Branham; Hiroko Matsui; Angel Soto Hermida; Michael Hicks; Akhila Alapati; Amalio Talenti; John Heckenlively; Kelly A. Frazer; Paul Sieving; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4466. doi:

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 June 2017

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Kari E Branham; Pooja Biswas; Luis Alexandre Rassi Gabriel; Angel Soto-Hermida; Hiroko Matsui; Amalio Telenti; Kelly A Frazer; John R Heckenlively; Paul A Sieving; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2754. doi:

ARVO Annual Meeting Abstract June 2017

Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree

Kevin Gustafson; Jacque L. Duncan; Pooja Biswas; Hiroko Matsui; Angel Soto-Hermida; John Suk; Amalio Telenti; Kelly A Frazer; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2759. doi:

ARVO Annual Meeting Abstract June 2017

Identification of a novel SDCCAG8 gene variant in a family with retinitis pigmentosa and kidney failure

Benjamin Bakall; Pooja Biswas; Hiroko Matsui; John Suk; Amalio Telenti; Kelly A Frazer; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2772. 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:

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

ARRP microarray and Exome analysis revealed known and novel mutations in Mexican pedigrees.

Adda L. Villanueva; Mathieu Langlois; Ian Mongrain; Sylvie Provost; Géraldine Asselin; Marie-Pierre Dubé; Keerti Tadimeti; John Suk; Pooja Biswas; Radha Ayyagari; Laboratoire Moleculaire Hopital Maissoneuve-Rossemont

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2866. doi:

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Single-nucleus multi-modal analysis of MFRP associated retinal degeneration

Single Nucleus Multi-modal Analysis of the Aging Mouse Retina

The role of the Complement pathway in L-ORD pathology caused by mutations in CTRP5.

Proteome analysis of choroidal aging in wild type and L-ORD mouse models

Htra1 KO mice develop severe photoreceptor loss and RPE abnormalities.

Identification of causative mutations in ten pedigrees with inherited retinal degeneration by whole genome analysis (WGS)

Identification of unique variants as the underlying cause of IRD in pedigrees that remained unresolved after initial whole genome sequence analysis.

Single cell genomic analysis to study the retinal cell type specific regulatory landscape of Mfrp-K O mice.

Detection and validation of the involvement of novel mutations in MERTK in recessive retinal degeneration using WGS and hiPSC-RPEs.

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

Mutations in the novel gene IFT88 are involved in causing non-syndromic inherited retinal degeneration (IRD)

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

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Whole genome sequencing revealed mutations in two independent genes as the underlying cause of retinal degeneration (RD) in an Ashkenazi Jewish Pedigree

Identification of a novel SDCCAG8 gene variant in a family with retinitis pigmentosa and kidney failure

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

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.

ARRP microarray and Exome analysis revealed known and novel mutations in Mexican pedigrees.

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