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Genetics March 2024

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

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Bhavana Kunisetty; Bailey A. Martin-Giacalone; Xiaonan Zhao; Pamela N. Luna; Brian P. Brooks; Robert B. Hufnagel; Chad A. Shaw; Jill A. Rosenfeld; A. J. Agopian; Philip J. Lupo; Daryl A. Scott
TAGS: cauda equina syndrome, cesium, complement membrane attack complex, genes, mac protocol, macao, mdc protocol, microphthalmos, mid upper arm circumference, minimum alveolar concentration
Invest. Ophthalmol. Vis. Sci.. 2024; 65(3):25. https://doi.org/10.1167/iovs.65.3.25

Includes: Supplemental Content

Genetics September 2023

RPGR : Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

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Matthew D. Benson; Souvick Mukherjee; Aime R. Agather; Delphine Blain; Denise Cunningham; Robert Mays; Xun Sun; Tiansen Li; Robert B. Hufnagel; Brian P. Brooks; Laryssa A. Huryn; Wadih M. Zein; Catherine A. Cukras
TAGS: phenotype determination, retinal diseases, genetics, dark adaptation, diagnostic imaging, cohort studies, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2023; 64(12):19. https://doi.org/10.1167/iovs.64.12.19

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Metformin Attenuates the Hallmarks of Stargardt Disease

Mitra Farnoodian; Francesca Barone; Marisa Boyle; Rishabh Gupta; Luke Matthew Nelson; Devika Abhijit Bose; Bokkyoo Jun; William C Gordon; Khanh V Do; Marie-Audrey Kautzmann Guerin; Tiziana Cogliati; Peter Walter; Laryssa Huryn; Nicolas G Bazan; Brian Patrick Brooks; Kapil Bharti

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):476.

ARVO Annual Meeting Abstract June 2023

TYROSINASE Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects

Arnold Leigh; Aman George; Tyler Pfister; Charles DeYoung; Ruchi Sharma; Mones Abu-Asab; Jizhong Zou; Kapil Bharti; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):775.

ARVO Annual Meeting Abstract June 2023

Evaluation of Cone Photoreceptors in Waardenburg Syndrome Type 2A Using Adaptive Optics

Nancy Aguilera; Tao Liu; Joseph Carroll; Brian Patrick Brooks; Robert B. Hufnagel; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1050.

ARVO Annual Meeting Abstract June 2023

Outer retinal microcavitations: an OCT finding in RP1 -associated retinitis pigmentosa

Ioannis Dimopoulos; Laryssa Huryn; Catherine A Cukras; Brian Patrick Brooks; Robert B. Hufnagel; Aime Agather; Delphine Blain; Wadih M Zein

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3422.

ARVO Annual Meeting Abstract June 2023

Increased lysosome and autophagosome presence in OCA1A iPSC derived Retinal Pigment Epithelium

Aman George; Arnold Leigh; Mones Abu-Asab; Ruchi Sharma; Kapil Bharti; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3889.

ARVO Annual Meeting Abstract June 2023

Evaluation of X-chromosome inactivation in a large cohort of females with X-linked retinal diseases

Chelsea Bender; Bin Guan; Amelia Naik; Ehsan Ullah; Amy Turriff; Aime Agather; Delphine Blain; Santa J Tumminia; Brian Patrick Brooks; Laryssa Huryn; Wadih M Zein; Catherine Cukras; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4496.

ARVO Annual Meeting Abstract June 2023

Identifying novel candidate coloboma genes through cross-species gene expression profiling

Daniel Sanchez-Mendoza; Uma Neelathi; David McGaughey; Elangovan Boobalan; Tiziana Cogliati; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4763.

ARVO Annual Meeting Abstract June 2023

Correlations of Optical Coherence Tomography Measurements to Visual Function in Patients with Retinitis Pigmentosa

Amisha Dave; Leah Cobb; Laryssa Huryn; Wadih M Zein; Brian Patrick Brooks; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4648.

ARVO Annual Meeting Abstract June 2023

Digital droplet PCR enables genotyping the red-green opsin array for clinical diagnostics

Amelia Naik; Bin Guan; Deena Elul; Edda Haggerty; Wadih M Zein; Cara Lwin; Zhiyu Li; Delphine Blain; Brian Patrick Brooks; Santa J Tumminia; David H Brainard; Geoffrey K Aguirre; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4534.

ARVO Annual Meeting Abstract June 2023

Characterization of FAT1 and Hippo signaling pathway proteins in human retinal pigment epithelium

Suzie Kim; Arnold Leigh; Aman George; Tyler Pfister; Kapil Bharti; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5086.

ARVO Annual Meeting Abstract June 2023

Association of Patient-Reported Outcomes with Objective Visual Function Measures in Retinitis Pigmentosa

Leah Horstemeyer Cobb; Laryssa Huryn; Wadih M Zein; Brian Patrick Brooks; Susan Vitale; Emily Y. Chew; Catherine A Cukras

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4653.

Genetics November 2022

Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure

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Elangovan Boobalan; Amy H. Thompson; Ramakrishna P. Alur; David M. McGaughey; Lijin Dong; Grace Shih; Emile R. Vieta-Ferrer; Ighovie F. Onojafe; Vijay K. Kalaskar; Gavin Arno; Andrew J. Lotery; Bin Guan; Chelsea Bender; Omar Memon; Lauren Brinster; Clement Soleilhavoup; Lia Panman; Tudor C. Badea; Andrea Minella; Antonio Jacobo Lopez; Sara M. Thomasy; Ala Moshiri; Delphine Blain; Robert B. Hufnagel; Tiziana Cogliati; Kapil Bharti; Brian P. Brooks
TAGS: embryo, fissure, mice, optics, eye, transcription factor
Invest. Ophthalmol. Vis. Sci.. 2022; 63(12):5. https://doi.org/10.1167/iovs.63.12.5

Includes: Supplemental Content

Multidisciplinary Ophthalmic Imaging July 2022

Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging

PDF

Tao Liu; Nancy Aguilera; Andrew J. Bower; Joanne Li; Ehsan Ullah; Alfredo Dubra; Catherine Cukras; Brian P. Brooks; Brett G. Jeffrey; Robert B. Hufnagel; Laryssa A. Huryn; Wadih M. Zein; Johnny Tam
TAGS: diagnostic imaging, eye, retinal cone, vitelliform dystrophy, optics, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2022; 63(8):27. https://doi.org/10.1167/iovs.63.8.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Visualization of the Photoreceptor / RPE / Choriocapillaris Complex in Choroideremia Using Adaptive Optics Enhanced Indocyanine Green Imaging

Nancy Aguilera; Tao Liu; Joanne Li; Andrew J. Bower; Rongwen Lu; John Giannini; Brian Patrick Brooks; Wadih M Zein; Laryssa Huryn; Johnny Tam

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):393 – F0431.

ARVO Annual Meeting Abstract June 2022

CRISPR -Cas9-mediated gene correction in Induced Pluripotent Stem Cells derived from Oculocutaneous Albinism Type 2 patients rescues pigmentation defect in Retinal Pigment Epithelium

Arnold Leigh; Tyler Pfister; Aman George; Ruchi Sharma; Mones Abu-Asab; Kapil Bharti; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1472.

ARVO Annual Meeting Abstract June 2022

An Effective and Versatile Zebrafish Model Using CRISPR Interference to Investigate Gene Functions Regulating Eye Development.

Sunit Dutta; Guangpu Shi; Lijin Dong; Brian Patrick Brooks

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1357 – F0288.

ARVO Annual Meeting Abstract June 2022

The Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study on behalf of the Foveal Development Investigators Group (FDIG)

Helen Kuht; Jinu Han; Line Kessel; Mies M. van Genderen; Richard W Hertle; Karen Gronskov; Vasily Smirnov; Fred Kuanfu Chen; Rachael C Heath Jeffery; Brian Patrick Brooks; Sasha Strul; Jin Jing; Martin Tobin; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1839.

ARVO Annual Meeting Abstract June 2022

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

Mervyn George Thomas; Helen Kuht; Jinu Han; Gail Maconachie; Rebecca McLean; Zhanhan Tu; Viral Sheth; Martin Tobin; Brian Patrick Brooks; Elizabeth Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1838.

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High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

RPGR : Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15

Metformin Attenuates the Hallmarks of Stargardt Disease

TYROSINASE Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects

Evaluation of Cone Photoreceptors in Waardenburg Syndrome Type 2A Using Adaptive Optics

Outer retinal microcavitations: an OCT finding in RP1 -associated retinitis pigmentosa

Increased lysosome and autophagosome presence in OCA1A iPSC derived Retinal Pigment Epithelium

Evaluation of X-chromosome inactivation in a large cohort of females with X-linked retinal diseases

Identifying novel candidate coloboma genes through cross-species gene expression profiling

Correlations of Optical Coherence Tomography Measurements to Visual Function in Patients with Retinitis Pigmentosa

Digital droplet PCR enables genotyping the red-green opsin array for clinical diagnostics

Characterization of FAT1 and Hippo signaling pathway proteins in human retinal pigment epithelium

Association of Patient-Reported Outcomes with Objective Visual Function Measures in Retinitis Pigmentosa

Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure

Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging

Visualization of the Photoreceptor / RPE / Choriocapillaris Complex in Choroideremia Using Adaptive Optics Enhanced Indocyanine Green Imaging

CRISPR -Cas9-mediated gene correction in Induced Pluripotent Stem Cells derived from Oculocutaneous Albinism Type 2 patients rescues pigmentation defect in Retinal Pigment Epithelium

An Effective and Versatile Zebrafish Model Using CRISPR Interference to Investigate Gene Functions Regulating Eye Development.

The Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study on behalf of the Foveal Development Investigators Group (FDIG)

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

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