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Genetics September 2019

Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

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Andrea R. Waksmunski; Michelle Grunin; Tyler G. Kinzy; Robert P. Igo, Jr; Jonathan L. Haines; Jessica N. Cooke Bailey; for the International Age-Related Macular Degeneration Genomics Consortium
TAGS: age-related macular degeneration, candidate disease gene, genes, genome, genome-wide association study, ophthalmology, universities, schools, medical, proteins, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(12):4041-4051. doi: 10.1167/iovs.19-27827

Includes: Supplemental Content

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

Glaucoma Examination in the Amish of Holmes County, Ohio

Jonathan Mikal Skarie; Tyler Kinzy; Jane Sewell; Yeunjoo E. Song; Renee Laux; Denise Fuzzell; Sarada Fuzzell; Erika Trapl; Farren BS Briggs; Louis R Pasquale; Janey L Wiggs; Jonathan L Haines; Jessica Cooke Bailey

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1602. doi:

ARVO Annual Meeting Abstract July 2019

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between LPHN3 and Vertical Cup-disc Ratio

Baojian Fan; P Ferdina Marie Sharmila; N Soumittra; S Sripriya; X. Raymond Gao; David S Friedman; L Vijaya; Jonathan L Haines; Ronnie J George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1618. doi:

ARVO Annual Meeting Abstract July 2019

Association of APOE with POAG suggests a protective effect for APOE4

Sophia M Letcher; Milica Margeta; Robert P. Igo; Jessica Cooke Bailey; Jonathan L Haines; Oleg Butovsky; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1627. doi:

ARVO Annual Meeting Abstract July 2019

Pathway analysis identifies PLCG2 as a candidate gene for age-related macular degeneration

Andrea R Waksmunski; Michelle Grunin; Tyler Kinzy; Robert P. Igo; Jonathan L Haines; Jessica Cooke Bailey

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2959. 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:

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:

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, plasma, exudative age-related macular degeneration, metabolites, metabolomics
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4978-4985. doi: 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:

ARVO Annual Meeting Abstract July 2018

Genetic, metagenomic, host response, and environmental factors influences on corneal infiltrative events in soft contact lens wearers: the MERGE pilot study

Kathryn Richdale; Cecilia Chao; Lakshmi Akileswaran; Russell Van Gelder; Jessica Cooke Bailey; Jonathan L Haines; Fiona Stapleton; Carol Lakkis; Mark D P Willcox

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1743. doi:

ARVO Annual Meeting Abstract July 2018

Glaucoma Examination in the Amish of Holmes County, Ohio

Jessica Cooke Bailey; Yeunjoo E Song; Jonathan Mikal Skarie; Renee Laux; Denise Fuzzell; Sarada Fuzzell; Louis R. Pasquale; Janey L Wiggs; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1818. doi:

ARVO Annual Meeting Abstract July 2018

Ocular phenome-wide association study (PheWAS) of glaucoma-associated genes identifies significant associations with ocular quantitative traits

Baojian Fan; Vimal Konduri; P Ferdina Marie Sharmila; N. Soumittra; S. Sripriya; David S Friedman; L. Vijaya; Jonathan L Haines; Ronnie J. George; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5135. doi:

ARVO Annual Meeting Abstract July 2018

Shared genetic effects between diabetes-related traits and glaucoma-related traits

Louis R. Pasquale; Vincent Laville; Hugo Aschard; Adriana I Iglesias; Jae H Kang; David Mackey; Veronique Vitart; Cornelia van Duijn; Jonathan L Haines; Janey L Wiggs

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5144. doi:

ARVO Annual Meeting Abstract July 2018

Choroidal Vascularity Index in Geographic Atrophy secondary to dry Age Related Macular Degeneration

Jyotsna Maram; Muneeswar Gupta Nittala; Siva Balasubramanian; Swetha Bindu Velaga; Jay Chhablani; Jonathan L Haines; Margaret A Pericak-Vance; Dwight Stambolian; Srinivas R. Sadda

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3208. doi:

Genetics May 2018

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

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Bao Jian Fan; Xueli Chen; Nisha Sondhi; P. Ferdinamarie Sharmila; Nagasamy Soumittra; Sarangapani Sripriya; Srinivasan Sacikala; Rashima Asokan; David S. Friedman; Louis R. Pasquale; X. Raymond Gao; Lingam Vijaya; Jessica Cooke Bailey; Veronique Vitart; Stuart MacGregor; Christopher J. Hammond; Chiea Chuen Khor; Jonathan L. Haines; Ronnie George; Janey L. Wiggs; for the Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
TAGS: cohort studies, family, genetic pedigree, single nucleotide polymorphism, cornea, genome-wide association study
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2495-2502. doi: 10.1167/iovs.17-23536

Includes: Supplemental Content

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: testosterone, metabolism, polymorphism, glaucoma, genes, open-angle glaucoma, datasets
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. doi: 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: mitochondria, chromosomes, human, pair 15, genome, single nucleotide polymorphism, genetics, age-related macular degeneration, significance, datasets
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):4027-4038. doi: 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:

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Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

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

Glaucoma Examination in the Amish of Holmes County, Ohio

Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between LPHN3 and Vertical Cup-disc Ratio

Association of APOE with POAG suggests a protective effect for APOE4

Pathway analysis identifies PLCG2 as a candidate gene for age-related macular degeneration

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

Genome-wide Association Study of Choroidal Thickness in the Amish

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

Genetic, metagenomic, host response, and environmental factors influences on corneal infiltrative events in soft contact lens wearers: the MERGE pilot study

Glaucoma Examination in the Amish of Holmes County, Ohio

Ocular phenome-wide association study (PheWAS) of glaucoma-associated genes identifies significant associations with ocular quantitative traits

Shared genetic effects between diabetes-related traits and glaucoma-related traits

Choroidal Vascularity Index in Geographic Atrophy secondary to dry Age Related Macular Degeneration

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

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

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