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Meeting Abstract (11)
Journal Articles (4)

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Investigative Ophthalmology & Visual Science (15)

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ARVO Annual Meeting Abstract (11)
Genetics (2)
Retina (2)

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Eye Anatomy and Disorders (3)
Genetics (3)
Retina (3)
Imaging (1)
Retinal Imaging (1)

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alleles (2)
electroretinography (2)
mutation (2)
age of onset (1)
family (1)
fundus autofluorescence imaging (1)
genes (1)
genotype-phenotype associations (1)
hemizygosity (1)
phenotype (1)

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ARVO Annual Meeting Abstract June 2020

Clinical and molecular diagnosis for 20 families with inherited retinal degeneration

Lea Bennett; John (P-W) Chiang; Bojana Radojevic

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2420.

ARVO Annual Meeting Abstract July 2019

Improving diagnostic yield in a large inherited retinal dystrophy cohort with high-throughput, NGS-based CNV calling -- a clinical evaluation of detection criteria and limitations

Nicholas K Wang; Jie Duan; Christa Kohnert; Gregory Goh; Wei Zhou; John (P-W) Chiang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):390.

ARVO Annual Meeting Abstract July 2019

Retinal phenotypic characterization of a Brazilian cohort of patients with homozygous ABCA4 alleles

Fernanda Belga Ottoni Porto; Shirley AM Sampaio; Simões T Renata; Rui Chen; John (P-W) Chiang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):408.

Genetics September 2018

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort

PDF

John P. W. Chiang; Tina M. Lamey; Nicholas K. Wang; Jie Duan; Wei Zhou; Terri L. McLaren; Jennifer A. Thompson; Jonathan Ruddle; John N. De Roach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(11):4434-4440. https://doi.org/10.1167/iovs.18-24555

ARVO Annual Meeting Abstract July 2018

Careful clinical-functional phenotyping combined with systematic, broad NGS Panel-based genotyping identify numerous novel disease-causing mutations and deletions in inherited retinal dystrophy (IRD) patients

Alessandro Iannaccone; Jay Berdia; Wajiha Kheir; Lindsay Mighion; Nicholas Wang; Cristina DaSilva; Jie Duan; John J. Alexander; John (P-W) Chiang

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5410.

ARVO Annual Meeting Abstract July 2018

High Throughput Clinical Testing of RPGR ORF15 Mutations in Patients with Inherited Retinal Dystrophy

John (P-W) Chiang; Tina, M Lamey; Jie Duan; Nicholas Wang; Terri L McLaren; Jennifer A Thompson; Jonathan Ruddle; John N De Roach

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2330.

Genetics November 2017

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype Correlation

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Mariana Vallim Salles; Fabiana Louise Motta; Elton Dias da Silva; Patricia Varela; Kárita Antunes Costa; Rafael Filippelli-Silva; Renan Paulo Martin; John (Pei-Wen) Chiang; João Bosco Pesquero; Juliana Maria Ferraz Sallum
TAGS: alleles, genes, genotype-phenotype associations, stargardt's disease, segregation analysis, family
Invest. Ophthalmol. Vis. Sci.. 2017; 58(13):5723-5730. https://doi.org/10.1167/iovs.17-22398

Retina November 2016

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients

PDF

Ana Fakin; Anthony G. Robson; John (Pei-Wen) Chiang; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; Graham E. Holder; Andrew R. Webster
TAGS: mutation, hemizygosity, alleles, severity of illness, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):5963-5973. https://doi.org/10.1167/iovs.16-20446

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Full field ERG responses and fundus autofluorescence of Stargardt patients harboring different non-null ABCA4 alleles in trans with null alleles

Ana Fakin; Anthony G Robson; Michel Michaelides; John (pei wen) Chiang; Anthony T Moore; Graham E Holder; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6589.

ARVO Annual Meeting Abstract September 2016

Association of a BEST1 Mutation with Retinitis Pigmentosa

Lauren A Dalvin; Jackson Abou Chehade; John (pei wen) Chiang; Josefine Fuchs; Raymond Iezzi; Alan D Marmorstein

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):655.

ARVO Annual Meeting Abstract September 2016

Genetic Testing Based on Next Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) in Brazilian Patients

Juliana M F Sallum; Karita Antunes Costa; MARIANA SALLES; John Pei - wen Chiang

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3156.

ARVO Annual Meeting Abstract September 2016

Photoreceptors, RPE and choriocapillaris loss in Stargardt disease as measured by OCT angiography and en face OCT.

Talal Alabduljalil; Abdullah Aoun Alqahtani; Rachel C. Patel; Simon S. Gao; Miao Zhang; Yali Jia; David Huang; Rui Chen; John Pei - wen Chiang; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5111.

Retina September 2016

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4

PDF

Ana Fakin; Anthony G. Robson; Kaoru Fujinami; Anthony T. Moore; Michel Michaelides; John (Pei-Wen) Chiang; Graham E. Holder; Andrew R. Webster
TAGS: electroretinography, mutation, phenotype, retinal degeneration, rna splicing, visual acuity, fundus autofluorescence imaging, age of onset
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4668-4678. https://doi.org/10.1167/iovs.16-19829

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Retinitis Pigmentosa or Sperm Dysfunction as the Only Signs of BBS2 Mutations

Brian D Perkins; Meghan J Marino; Gayle J T Pauer; John (pei wen) Chiang; Glenn Lobo; Joseph Fogerty; Stephanie A Hagstrom; Elias I Traboulsi

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2869.

ARVO Annual Meeting Abstract June 2015

Smart Sequencing Through the SmartChip: A Tool To Replace Conventional PCR-based Target Enrichment

John (pei wen) Chiang; Navneet Mander; Nick Wei-Ru Li; Jie Duan; Marla Tamarit Calderon; Natasha VanMatre; Karita Antunes Costa; Chris Whitebirch; Sujata Bhatt

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3092.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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