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ARVO Annual Meeting Abstract June 2025

Optimizing Long-Lead Sequencing Strategies to Phase Pathogenic Variants and Imprinted Loci Across Diagnostic Retinal Disease Gene Panels

Kenji Nakamichi; Debarshi Mustafi; Behrouz Rahimi; Jennifer Huey; Russell N Van Gelder

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5131.

ARVO Annual Meeting Abstract June 2025

Integration of ophthalmology clinics with dedicated genetic counselors leads to timelier and increased molecular diagnostic rate of inherited retinal diseases

Mark Lindquist; Jennifer Cech; Amanda Peterson; Jennifer Huey; Debarshi Mustafi

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):6055.

ARVO Annual Meeting Abstract June 2025

Diagnostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in inherited retinal diseases

Debarshi Mustafi; Kenji Nakamichi; Jennifer Huey; Behrouz Rahimi; Mark Lindquist; Russell N Van Gelder; Andrew W. Stacey

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1342.

Visual Psychophysics and Physiological Optics August 2024

Multimodal High-Resolution Imaging in Retinitis Pigmentosa: A Comparison Between Optoretinography, Cone Density, and Visual Sensitivity

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Benjamin J. Wendel; Vimal Prabhu Pandiyan; Teng Liu; Xiaoyun Jiang; Ayoub Lassoued; Emily Slezak; Sierra Schleufer; Palash Bharadwaj; William S. Tuten; Debarshi Mustafi; Jennifer R. Chao; Ramkumar Sabesan
TAGS: retinal cone, retinitis pigmentosa, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2024; 65(10):45. https://doi.org/10.1167/iovs.65.10.45

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Assessment of structure and function in retinitis pigmentosa (RP) patients using coarse-scale optoretinography (CoORG)

Teng Liu; Vimal Prabhu Pandiyan; Ben Wendel; Jennifer Huey; Debarshi Mustafi; Jennifer R Chao; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3905.

ARVO Annual Meeting Abstract June 2024

Rapid identification of disease-causing germline variants in retinoblastoma patients using targeted long-read sequencing

Jennifer Huey; Kenji Nakamichi; Andrew Stacey; Debarshi Mustafi

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3276.

ARVO Annual Meeting Abstract June 2024

A framework to score the deleteriousness of nucleotide variants in inherited retinal diseases allows disease variant discovery from long-read sequencing data

Sam Kushner-Lenhoff; Stefan Stafie; Jennifer Huey; Kenji Nakamichi; Debarshi Mustafi

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4941.

ARVO Annual Meeting Abstract June 2024

Targeted long-read genome sequencing provides comprehensive genetic diagnosis of inherited retinal diseases

Debarshi Mustafi; Kenji Nakamichi; Jennifer Huey; Jennifer R Chao; Russell N Van Gelder

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4240.

ARVO Annual Meeting Abstract June 2024

Genotypic and electroretinogram signatures in children with inherited retinal degeneration

Ryan Tatsuo Yanagihara; Charlie M Sawyer; John Kelly; Jennifer Huey; Debarshi Mustafi

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5400.

Optica Fall Vision Meeting Abstract December 2023

Contributed Session I: Correlating cone structure and function in retinitis pigmentosa using coarse-scale optoretinography (CoORG)

Teng Liu; Vimal Prabhu Pandiyan; Benjamin Wendel; Emily Slezak; Debarshi Mustafi; Jennifer Chao; Ramkumar Sabesan
TAGS: retinal cone, retinitis pigmentosa
Journal of Vision. 2023; 23(15):69. https://doi.org/10.1167/jov.23.15.69

ARVO Annual Meeting Abstract June 2023

Identification of phased variants in inherited retinal disease patients using targeted long-read sequencing

Debarshi Mustafi; Kenji nakamichi; Russell N Van Gelder; Jennifer R Chao

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2797.

ARVO Annual Meeting Abstract June 2023

Cone outer segment length does not explain optoretinography-derived measures of cone dysfunction in retinitis pigmentosa

Ben Wendel; Teng Liu; Vimal Prabhu Pandiyan; Emily Slezak; Debarshi Mustafi; Jennifer R Chao; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3354.

ARVO Annual Meeting Abstract June 2022

The diversity of genetic testing platforms for inherited retinal diseases

Debarshi Mustafi; Jennifer R Chao

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):135 – A0315.

ARVO Annual Meeting Abstract June 2022

Multimodal high-resolution imaging of retinal function in Retinitis Pigmentosa

Ben J Wendel; Vimal Prabhu Pandiyan; Xiaoyun Jiang; Ayoub Lassoued; Emily Slezak; William Scott Tuten; Debarshi Mustafi; Jennifer R Chao; Ramkumar Sabesan

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2686.

ARVO Annual Meeting Abstract July 2019

Relationship of Epiretinal Membrane Formation and Macular Edema Development in Uveitic Eyes

DEBARSHI MUSTAFI; Brian K Do; Narsing A Rao

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6678.

ARVO Annual Meeting Abstract July 2018

Effect of combined presence of epiretinal membrane and cystoid macular edema on visual acuity in uveitis

Debarshi Mustafi; Brian Do; Narsing A Rao

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4211.

ARVO Annual Meeting Abstract July 2018

Optical Coherence Tomography Angiographic (OCTA) Changes in Retinal Vasculature after Episcleral Plaque Brachytherapy (EPB) for Choroidal Melanoma

Brian Toy; Debarshi Mustafi; Kyle Marcus Green; Anoush Shahidzadeh; Amir H Kashani; Jesse L Berry

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4299.

ARVO Annual Meeting Abstract July 2018

Assessing Response of Retinal Microvasculature Density and Morphology to Intra-vitreal Dexamethasone Implant Injections for Ocular Inflammatory Disease with Spectral Domain Optical Coherence Tomography Angiography (SD-OCTA)

Youning Zhang; Brian Do; Debarshi Mustafi; Kaitlin Kogachi; Zhongdi Chu; Ruikang K Wang; Damien C Rodger; Narsing A Rao; Amir H Kashani

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2835.

ARVO Annual Meeting Abstract June 2017

Features of retinitis pigmentosa defined by high throughput sequencing and wide field imaging

Debarshi Mustafi; Krzysztof Palczewski; Hossein Ameri

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):279.

ARVO Annual Meeting Abstract September 2016

Comparative genomic analysis reveals a functional evolution of vision across mammals

Debarshi Mustafi; Brian Kevany; Krzysztof Palczewski

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6563.

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Optimizing Long-Lead Sequencing Strategies to Phase Pathogenic Variants and Imprinted Loci Across Diagnostic Retinal Disease Gene Panels

Integration of ophthalmology clinics with dedicated genetic counselors leads to timelier and increased molecular diagnostic rate of inherited retinal diseases

Diagnostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in inherited retinal diseases

Multimodal High-Resolution Imaging in Retinitis Pigmentosa: A Comparison Between Optoretinography, Cone Density, and Visual Sensitivity

Assessment of structure and function in retinitis pigmentosa (RP) patients using coarse-scale optoretinography (CoORG)

Rapid identification of disease-causing germline variants in retinoblastoma patients using targeted long-read sequencing

A framework to score the deleteriousness of nucleotide variants in inherited retinal diseases allows disease variant discovery from long-read sequencing data

Targeted long-read genome sequencing provides comprehensive genetic diagnosis of inherited retinal diseases

Genotypic and electroretinogram signatures in children with inherited retinal degeneration

Contributed Session I: Correlating cone structure and function in retinitis pigmentosa using coarse-scale optoretinography (CoORG)

Identification of phased variants in inherited retinal disease patients using targeted long-read sequencing

Cone outer segment length does not explain optoretinography-derived measures of cone dysfunction in retinitis pigmentosa

The diversity of genetic testing platforms for inherited retinal diseases

Multimodal high-resolution imaging of retinal function in Retinitis Pigmentosa

Relationship of Epiretinal Membrane Formation and Macular Edema Development in Uveitic Eyes

Effect of combined presence of epiretinal membrane and cystoid macular edema on visual acuity in uveitis

Optical Coherence Tomography Angiographic (OCTA) Changes in Retinal Vasculature after Episcleral Plaque Brachytherapy (EPB) for Choroidal Melanoma

Assessing Response of Retinal Microvasculature Density and Morphology to Intra-vitreal Dexamethasone Implant Injections for Ocular Inflammatory Disease with Spectral Domain Optical Coherence Tomography Angiography (SD-OCTA)

Features of retinitis pigmentosa defined by high throughput sequencing and wide field imaging

Comparative genomic analysis reveals a functional evolution of vision across mammals

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