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ARVO Annual Meeting Abstract June 2020

North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families

Kent W Small; Edwin M Stone; Monique J Leys; Richard Alan Lewis; Steven Agemy; Charles A Garcia; Todd Schneiderman; Thomas A Rice; Fadi Shaya

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4462. doi:

ARVO Annual Meeting Abstract July 2018

Long-term Safety and Ocular Hypotensive Efficacy of Netarsudil Ophthalmic Solution: The ROCKET-2 Study

Janet B Serle; Malik Kahook; Richard A Lewis; Theresa G. H. Heah; Nancy Ramirez-Davis; Casey Kopczynski; Dale W Usner; Gary Novack

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1242. doi:

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy: mutations found in 12 additional families

Kent W Small; Fadi Shaya; Svetlana Yelchits; Adam P DeLuca; Richard Alan Lewis; Monique J Leys; Nitin Udar; Benjamin Bakall; Klaus Rohrschneider; Bernard Puech; Virginie Puech; Elise Heon; James C Folk; Gerald A Fishman; Christine Garabetian; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2779. doi:

ARVO Annual Meeting Abstract June 2017

3-month Interim Report of a Prospective 12-month Safety and Efficacy Study of Topical PG324 (Fixed Combination of Netarsudil 0.02% and Latanoprost 0.005%) Compared to the Individual Components in Subjects with Elevated Intraocular Pressure

Janet B Serle; Richard Alan Lewis; Casey Kopczynski; Theresa Heah

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2462. doi:

ARVO Annual Meeting Abstract September 2016

Bimatoprost Sustained-Release Implants for Glaucoma Therapy: 12-Month Interim Results From a Phase 1/2 Clinical Trial

Shamira Perera; Richard A. Lewis; William C Christie; Douglas G Day; E R Craven; Marina Bejanian; Susan S Lee; Margot L Goodkin; Jane Zhang; Michael R Robinson

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

ARVO Annual Meeting Abstract September 2016

North Carolina Macular Dystrophy (NCMD / MCDR1) mutations found; PRDM13

Kent W Small; Adam P DeLuca; Frans P Cremers; Carl Hoyng; Monique J Leys; Benjamin Bakall; Richard Allen Lewis; Rosemary Silva-Garcia; Klaus Rohrschneider; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3133. doi:

ARVO Annual Meeting Abstract June 2015

Undiagnosed retinal disease cases caused by mutations in non-canonical retinal disease genes

Xia Wang; Yanming A Feng; Richard A Lewis; Victor Zhang; Jing Wang; Lee-Jun Wong

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2879. doi:

ARVO Annual Meeting Abstract June 2015

Advancing ENV515 (travoprost) Intracameral Implant into Clinical Development: Nonclinical Evaluation of ENV515 in Support of First-Time-in-Human Phase 2a Clinical Study

Tomas Navratil; Andres Garcia; Rozemarijn S Verhoeven; Leo Trevino; Brian C Gilger; Steven L Mansberger; Donald L Budenz; Iqbal Ike K. Ahmed; Richard A. Lewis; Benjamin R Yerxa

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5706. doi:

Genetics November 2014

A Dominant Mutation in Hexokinase 1 ( HK1 ) Causes Retinitis Pigmentosa

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Lori S. Sullivan; Daniel C. Koboldt; Sara J. Bowne; Steven Lang; Susan H. Blanton; Elizabeth Cadena; Cheryl E. Avery; Richard A. Lewis; Kaylie Webb-Jones; Dianna H. Wheaton; David G. Birch; Razck Coussa; Huanan Ren; Irma Lopez; Christina Chakarova; Robert K. Koenekoop; Charles A. Garcia; Robert S. Fulton; Richard K. Wilson; George M. Weinstock; Stephen P. Daiger
TAGS: genes, hexokinase, mutation, retinitis pigmentosa, family
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7147-7158. doi: https://doi.org/10.1167/iovs.14-15419

Includes: Supplemental Content

Genetics October 2014

Dependable and Efficient Clinical Utility of Target Capture-Based Deep Sequencing in Molecular Diagnosis of Retinitis Pigmentosa

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Jing Wang; Victor W. Zhang; Yanming Feng; Xia Tian; Fang-Yuan Li; Cavatina Truong; Guoli Wang; Pei-Wen Chiang; Richard A. Lewis; Lee-Jun C. Wong
TAGS: genes, massively-parallel genome sequencing, molecular diagnostic techniques, mutation, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2014; 55(10):6213-6223. doi: https://doi.org/10.1167/iovs.14-14936

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Preclinical Evaluation of ENV515 (travoprost) Intracameral Implant - Clinical Candidate for Treatment of Glaucoma Targeting Six-Month Duration of Action

Tomas Navratil; Andres Garcia; Janet Tully; Benjamin Maynor; Iqbal Ike K Ahmed; Donald L Budenz; Richard A Lewis; Steven L Mansberger; Brian C Gilger; Benjamin R Yerxa

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3548. doi:

ARVO Annual Meeting Abstract April 2014

Next Generation Approach to Molecular Diagnosis of Ocular Diseases

Lee-Jun C Wong; Victor Zhang; Yanming Feng; Fangyuan Li; Cavatina K Truong; Guoli Wang; Jing Wang; Richard A Lewis

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6392. doi:

ARVO Annual Meeting Abstract April 2014

Screening the DNA of Ocular Albinism Patients for Possible Mutations in GNAI3 (Guanine Nucleotide Binding Protein, Alpha Inhibiting Activity Polypeptide 3 gene)

Alejandra Young; Richard A Lewis; Debora B Farber

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6438. doi:

Genetics February 2013

Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

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Jennifer D. Churchill; Sara J. Bowne; Lori S. Sullivan; Richard Alan Lewis; Dianna K. Wheaton; David G. Birch; Kari E. Branham; John R. Heckenlively; Stephen P. Daiger
TAGS: family, genes, mutation, retinitis pigmentosa, x-linked inheritance, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2013; 54(2):1411-1416. doi: https://doi.org/10.1167/iovs.12-11541

Genetics December 2012

Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease

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Kari Branham; Mohammad Othman; Matthew Brumm; Athanasios J. Karoukis; Pelin Atmaca-Sonmez; Beverly M. Yashar; Sharon B. Schwartz; Niamh B. Stover; Karmen Trzupek; Dianna Wheaton; Barbara Jennings; Maria Laura Ciccarelli; K. Thiran Jayasundera; Richard A. Lewis; David Birch; Jean Bennett; Paul A. Sieving; Sten Andreasson; Jacque L. Duncan; Gerald A. Fishman; Alessandro Iannaccone; Richard G. Weleber; Samuel G. Jacobson; John R. Heckenlively; Anand Swaroop
TAGS: degenerative disorders, mutation, x-linked inheritance, screening, genes
Invest. Ophthalmol. Vis. Sci.. 2012; 53(13):8232-8237. doi: https://doi.org/10.1167/iovs.12-11025

ARVO Annual Meeting Abstract March 2012

Risk Of Cataract In Persons With Acquired Immune Deficiency Syndrome And Cytomegalovirus Retinitis

Elizabeth A. Sugar; Alice T. Lyon; Richard A. Lewis; Douglas A. Jabs; Murk-Hein Heinemann; James P. Dunn; John H. Kempen; Studies of Ocular Complications of AIDS Research Group

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):6218. doi:

ARVO Annual Meeting Abstract April 2011

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

Rui Chen; Hui Wang; Richard A. Lewis; James R. Lupski; Graeme Mardon; Emad B. Abboud; Ali A. Al-Rajhi; Richard A. Gibbs; Robert K. Koenekoop; Degui Zhi

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3320. doi:

Retina March 2009

Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

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Yumei Li; Hui Wang; Jianlan Peng; Richard A. Gibbs; Richard Alan Lewis; James R. Lupski; Graeme Mardon; Rui Chen
TAGS: family, genes, mutation, surveys
Invest. Ophthalmol. Vis. Sci.. 2009; 50(3):1336-1343. doi: https://doi.org/10.1167/iovs.08-2589

Retina October 2006

Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa

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Lori S. Sullivan; Sara J. Bowne; C. Robyn Seaman; Susan H. Blanton; Richard A. Lewis; John R. Heckenlively; David G. Birch; Dianna Hughbanks-Wheaton; Stephen P. Daiger
TAGS: cohort studies, family, gene rearrangement, genes, retinitis pigmentosa, amplification, mutation, exons, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2006; 47(10):4579-4588. doi: https://doi.org/10.1167/iovs.06-0440

Includes: Supplemental Content

Retina July 2006

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

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Lori S. Sullivan; Sara J. Bowne; David G. Birch; Dianna Hughbanks-Wheaton; John R. Heckenlively; Richard Alan Lewis; Charles A. Garcia; Richard S. Ruiz; Susan H. Blanton; Hope Northrup; Anisa I. Gire; Robyn Seaman; Hatice Duzkale; Catherine J. Spellicy; Jingya Zhu; Suma P. Shankar; Stephen P. Daiger
TAGS: family, genes, mutation, retinitis pigmentosa, prevalence, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2006; 47(7):3052-3064. doi: https://doi.org/10.1167/iovs.05-1443

Includes: Supplemental Content

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North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families

Long-term Safety and Ocular Hypotensive Efficacy of Netarsudil Ophthalmic Solution: The ROCKET-2 Study

North Carolina macular dystrophy: mutations found in 12 additional families

3-month Interim Report of a Prospective 12-month Safety and Efficacy Study of Topical PG324 (Fixed Combination of Netarsudil 0.02% and Latanoprost 0.005%) Compared to the Individual Components in Subjects with Elevated Intraocular Pressure

Bimatoprost Sustained-Release Implants for Glaucoma Therapy: 12-Month Interim Results From a Phase 1/2 Clinical Trial

North Carolina Macular Dystrophy (NCMD / MCDR1) mutations found; PRDM13

Undiagnosed retinal disease cases caused by mutations in non-canonical retinal disease genes

Advancing ENV515 (travoprost) Intracameral Implant into Clinical Development: Nonclinical Evaluation of ENV515 in Support of First-Time-in-Human Phase 2a Clinical Study

A Dominant Mutation in Hexokinase 1 ( HK1 ) Causes Retinitis Pigmentosa

Dependable and Efficient Clinical Utility of Target Capture-Based Deep Sequencing in Molecular Diagnosis of Retinitis Pigmentosa

Preclinical Evaluation of ENV515 (travoprost) Intracameral Implant - Clinical Candidate for Treatment of Glaucoma Targeting Six-Month Duration of Action

Next Generation Approach to Molecular Diagnosis of Ocular Diseases

Screening the DNA of Ocular Albinism Patients for Possible Mutations in GNAI3 (Guanine Nucleotide Binding Protein, Alpha Inhibiting Activity Polypeptide 3 gene)

Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease

Risk Of Cataract In Persons With Acquired Immune Deficiency Syndrome And Cytomegalovirus Retinitis

Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

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