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ARVO Annual Meeting Abstract June 2021

Investigation of the use of drusen as a biomarker for age-related macular degeneration reveals shared genetic risk in the Amish

Michael David Osterman; Yeunjoo E Song; Muneeswar Nittala; Srinivas R Sadda; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):170. doi:

ARVO Annual Meeting Abstract June 2020

A Genome-wide Association Study of Drusen Traits in the Amish

Michael David Osterman; Yeunjoo E Song; Muneeswar G. Nittala; Srinivas Sadda; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2440. doi:

ARVO Annual Meeting Abstract June 2020

Retinal pigment epithelium (RPE) pigmentary changes are associated with progression from early to advanced age-related macular degeneration (AMD) independent of CFH and ARMS2 risk genotypes.

William K Scott; Susan H. Slifer; Jacob K. Welch; Stephen G Schwartz; Jaclyn L Kovach; Srinivas Sadda; Muneeswar G. Nittala; Jonathan L Haines; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4189. doi:

ARVO Annual Meeting Abstract July 2019

Genome-wide Association Study of Choroidal Thickness in the Amish

Omar García Rodríguez; Susan Hackleman Slifer; William K Scott; Yeunjoo E. Song; Kristy Miskimen; Muneeswar Gupta Nittala; Srinivas R Sadda; Jonathan L Haines; Margaret A Pericak-Vance; Dwight Stambolian

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2831. doi:

ARVO Annual Meeting Abstract July 2019

Metabolomics reveals changes in fatty acid metabolism in age-related macular degeneration patients

Milam A Brantley; Karan Uppal; Chunyu Ma; Anita Agarwal; Margaret A Pericak-Vance; William K Scott; Jonathan L Haines; Dean Jones; Sabrina L Mitchell

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1187. doi:

ARVO Annual Meeting Abstract July 2019

Three loci associated with risk of advanced age-related macular degeneration (AMD) also influence anti-VEGF treatment response

William K Scott; Omar García Rodríguez; Patrice Whitehead-Gay; Larry D. Adams; Jacob K. Welch; Renee Laux; Milam A Brantley; Jaclyn L. Kovach; Stephen G Schwartz; Anita Agarwal; Jonathan L Haines; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2968. doi:

Retina October 2018

The Carnitine Shuttle Pathway is Altered in Patients With Neovascular Age-Related Macular Degeneration

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Sabrina L. Mitchell; Karan Uppal; Samantha M. Williamson; Ken Liu; L. Goodwin Burgess; ViLinh Tran; Allison C. Umfress; Kelli L. Jarrell; Jessica N. Cooke Bailey; Anita Agarwal; Margaret Pericak-Vance; Jonathan L. Haines; William K. Scott; Dean P. Jones; Milam A. Brantley, Jr
TAGS: carnitine, exudative age-related macular degeneration, metabolites, metabolomics, plasma
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4978-4985. doi: https://doi.org/10.1167/iovs.18-25137

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Investigation of a rare risk variant in complement factor H for age-related macular degeneration in the Amish

Andrea R. Waksmunski; Kristy Miskimen; Yeunjoo E. Song; Renee Laux; Denise Fuzzell; Sarada Fuzzell; Larry D. Adams; Laura Caywood; Michael Prough; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1420. doi:

Glaucoma February 2018

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

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Jessica N. Cooke Bailey; Puya Gharahkhani; Jae H. Kang; Mariusz Butkiewicz; David A. Sullivan; Robert N. Weinreb; Hugues Aschard; R. Rand Allingham; Allison Ashley-Koch; Richard K. Lee; Sayoko E. Moroi; Murray H. Brilliant; Gadi Wollstein; Joel S. Schuman; John H. Fingert; Donald L. Budenz; Tony Realini; Terry Gaasterland; William K. Scott; Kuldev Singh; Arthur J. Sit; Robert P. Igo, Jr; Yeunjoo E. Song; Lisa Hark; Robert Ritch; Douglas J. Rhee; Douglas Vollrath; Donald J. Zack; Felipe Medeiros; Thasarat S. Vajaranant; Daniel I. Chasman; William G. Christen; Margaret A. Pericak-Vance; Yutao Liu; Peter Kraft; Julia E. Richards; Bernard A. Rosner; Michael A. Hauser; Jamie E. Craig; Kathryn P. Burdon; Alex W. Hewitt; David A. Mackey; Jonathan L. Haines; Stuart MacGregor; Janey L. Wiggs; Louis R. Pasquale; for the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium
TAGS: genes, glaucoma, metabolism, open-angle glaucoma, testosterone, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. doi: https://doi.org/10.1167/iovs.17-22708

Includes: Supplemental Content

Genetics August 2017

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1

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Patrice J. Persad; Iris M. Heid; Daniel E. Weeks; Paul N. Baird; Eiko K. de Jong; Jonathan L. Haines; Margaret A. Pericak-Vance; William K. Scott; for the International Age-Related Macular Degeneration Genomics Consortium (IAMDGC)
TAGS: age-related macular degeneration, datasets, genome, mitochondria, significance, single nucleotide polymorphism, chromosomes, human, pair 15, genetics
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):4027-4038. doi: https://doi.org/10.1167/iovs.17-21734

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

The Amish Eye Study: Baseline Quantitative Ocular Characteristics on a Unique Cohort

Jonathan L Haines; Nicole Restrepo; Yeunjoo Song; Renee Laux; Larry Deon Adams; Denise Fuzzell; Laura J Caywood; Violet Horst; Tine MacKay; Debbie Dana; Muneeswar Gupta Nittala; Srinivas R Sadda; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):188. doi:

ARVO Annual Meeting Abstract June 2017

Contribution of AMD risk variants to the genetic architecture of choroidal thickness in the Amish

Nicole Restrepo; Yeunjoo Song; Renee Laux; Larry Deon Adams; Denise Fuzzell; Laura J Caywood; Violet Horst; Tine MacKay; Debbie Dana; Muneeswar Gupta Nittala; Srinivas R Sadda; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1835. doi:

ARVO Annual Meeting Abstract June 2017

New evidence for enrichment of metabolic, signaling, and inflammatory pathways in age-related macular degeneration

Andrea R Waksmunski; Jessica Cooke Bailey; Margaret A Pericak-Vance; William K Scott; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1851. doi:

ARVO Annual Meeting Abstract June 2017

Genetic Variation in RRAGC Affects Progression Rate from Intermediate to Advanced Age-Related Macular Degeneration

William K Scott; Patrice Persad; Rebecca J Sardell; Samuel S Pan; Patrice Whitehead Gay; Larry Deon Adams; Renee Laux; Jorge Fortun; Milam A Brantley; Jaclyn L Kovach; Stephen G Schwartz; Anita Agarwal; Jonathan L Haines; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3424. doi:

Genetics November 2016

Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus

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Rebecca J. Sardell; Patrice J. Persad; Samuel S. Pan; Patrice Whitehead; Larry D. Adams; Reneé A. Laux; Jorge A. Fortun; Milam A. Brantley, Jr; Jaclyn L. Kovach; Stephen G. Schwartz; Anita Agarwal; Jonathan L. Haines; William K. Scott; Margaret A. Pericak-Vance
TAGS: age-related macular degeneration, alleles, genetic risk, choroidal neovascularization, genotype, single nucleotide polymorphism, eye
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6107-6115. doi: https://doi.org/10.1167/iovs.16-19519

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Genome-Wide Interaction Study of Nuclear and Mitochondrial (mt) Variants in Age-Related Macular Degeneration (AMD) Identifies Novel Locus TRPM1

Patrice Persad; William K Scott

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2624. doi:

ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing in the Amish identifies candidate rare variants for AMD

Mariusz Butkiewicz; Rebecca J Sardell; Patrice Whitehead; William K. Scott; Dwight Stambolian; Margaret A Pericak-Vance; Jonathan Haines

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2643. doi:

ARVO Annual Meeting Abstract September 2016

The heritability of choroidal thickness in the Amish

Margaret A Pericak-Vance; Rebecca J Sardell; Muneeswar gupta Nittala; Larry Deon Adams; Renee Laux; Debra Dana; William K Scott; Srinivas R Sadda; Dwight Stambolian; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2644. doi:

ARVO Annual Meeting Abstract September 2016

Investigating Scaffold RNA Support of a Lead Hammerhead Ribozyme Therapeutic for RHO adRP

Zahra Fayazi; Scott W Ketcham; Mohammed Zuber; Mark Christian Butler; Jack M Sullivan

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):787. doi:

Genetics September 2016

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

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Anthony P. Khawaja; Jessica N. Cooke Bailey; Jae Hee Kang; R. Rand Allingham; Michael A. Hauser; Murray Brilliant; Donald L. Budenz; William G. Christen; John Fingert; Douglas Gaasterland; Terry Gaasterland; Peter Kraft; Richard K. Lee; Paul R. Lichter; Yutao Liu; Felipe Medeiros; Syoko E. Moroi; Julia E. Richards; Tony Realini; Robert Ritch; Joel S. Schuman; William K. Scott; Kuldev Singh; Arthur J. Sit; Douglas Vollrath; Gadi Wollstein; Donald J. Zack; Kang Zhang; Margaret Pericak-Vance; Robert N. Weinreb; Jonathan L. Haines; Louis R. Pasquale; Janey L. Wiggs
TAGS: genes, genetics, mitochondria, open-angle glaucoma
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):5046-5052. doi: https://doi.org/10.1167/iovs.16-20017

Includes: Supplemental Content

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Investigation of the use of drusen as a biomarker for age-related macular degeneration reveals shared genetic risk in the Amish

A Genome-wide Association Study of Drusen Traits in the Amish

Retinal pigment epithelium (RPE) pigmentary changes are associated with progression from early to advanced age-related macular degeneration (AMD) independent of CFH and ARMS2 risk genotypes.

Genome-wide Association Study of Choroidal Thickness in the Amish

Metabolomics reveals changes in fatty acid metabolism in age-related macular degeneration patients

Three loci associated with risk of advanced age-related macular degeneration (AMD) also influence anti-VEGF treatment response

The Carnitine Shuttle Pathway is Altered in Patients With Neovascular Age-Related Macular Degeneration

Investigation of a rare risk variant in complement factor H for age-related macular degeneration in the Amish

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1

The Amish Eye Study: Baseline Quantitative Ocular Characteristics on a Unique Cohort

Contribution of AMD risk variants to the genetic architecture of choroidal thickness in the Amish

New evidence for enrichment of metabolic, signaling, and inflammatory pathways in age-related macular degeneration

Genetic Variation in RRAGC Affects Progression Rate from Intermediate to Advanced Age-Related Macular Degeneration

Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus

Genome-Wide Interaction Study of Nuclear and Mitochondrial (mt) Variants in Age-Related Macular Degeneration (AMD) Identifies Novel Locus TRPM1

Whole Exome Sequencing in the Amish identifies candidate rare variants for AMD

The heritability of choroidal thickness in the Amish

Investigating Scaffold RNA Support of a Lead Hammerhead Ribozyme Therapeutic for RHO adRP

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

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