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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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract April 2014

Exome analysis revealed novel and known mutations in Indian, Pakistani and Caucasian pedigrees with recessive retinal degeneration

Pooja Biswas; Bruno Maranhao; Igor Kozak; Michelle Parke; Kari E Branham; Luis Alexandre Rassi Gabriel; John R Heckenlively; Amer S Riazuddin; Jacque L Duncan; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3293. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2013

Exome analysis identified novel mutations in the FAM161A gene in a family with recessive retinal degeneration

Jacque Duncan; Pooja Biswas; Igor Kozak; Mili Navani; Rafael Caruso; John Heckenlively; Austin Roorda; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3347. doi: https://doi.org/

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: https://doi.org/

ARVO Annual Meeting Abstract June 2013

A whole exome variant filtering software for identification of disease causing variants

Bruno Maranhao; Pooja Biswas; Gabriel Silva; John Heckenlively; S. Amer Riazuddin; Pauline Lee; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3377. doi: https://doi.org/

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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.

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.

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

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

Exome analysis revealed novel and known mutations in Indian, Pakistani and Caucasian pedigrees with recessive retinal degeneration

Exome analysis identified novel mutations in the FAM161A gene in a family with recessive retinal degeneration

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

A whole exome variant filtering software for identification of disease causing variants

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