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Etiologic Studies of Macular Degeneration

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Seven New Loci Associated with Age-Related Macular Degeneration

Lars G. Fritsche, Lars G. Fritsche, Wei Chen, et al. (2013). Nature genetics. Cited 786 times. https://doi.org/10.1038/ng.2578

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

J. Maller, S. George, S. Purcell, et al. (2006). Nature Genetics. Cited 636 times. https://doi.org/10.1038/ng1873

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

B. Neale, J. Fagerness, J. Fagerness, et al. (2010). Proceedings of the National Academy of Sciences. Cited 468 times. https://doi.org/10.1073/pnas.0912019107

The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences.

J. Seddon, Jennifer Cote, W. Page, et al. (2005). Archives of ophthalmology. Cited 468 times. https://doi.org/10.1001/ARCHOPHT.123.3.321

Variation in complement factor 3 is associated with risk of age-related macular degeneration

J. Maller, J. Fagerness, Robyn C Reynolds, et al. (2007). Nature Genetics. Cited 450 times. https://doi.org/10.1038/ng2131

Association between C-reactive protein and age-related macular degeneration.

J. Seddon, G. Gensler, R. Milton, et al. (2004). JAMA. Cited 448 times. https://doi.org/10.1016/J.AJO.2004.08.022

Cigarette smoking, fish consumption, omega-3 fatty acid intake, and associations with age-related macular degeneration: the US Twin Study of Age-Related Macular Degeneration.

J. Seddon, S. George, B. Rosner. (2006). Archives of ophthalmology. Cited 423 times. https://doi.org/10.1001/ARCHOPHT.124.7.995

Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers.

J. Seddon, S. George, B. Rosner, et al. (2005). Archives of ophthalmology. Cited 381 times. https://doi.org/10.1001/ARCHOPHT.123.6.774

Variation near complement factor I is associated with risk of advanced AMD

J. Fagerness, J. Maller, B. Neale, et al. (2009). European Journal of Human Genetics. Cited 357 times. https://doi.org/10.1038/ejhg.2008.140

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

J. Seddon, Yi Yu, Elizabeth C. Miller, et al. (2013). Nature genetics. Cited 354 times. https://doi.org/10.1038/ng.2741

Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration.

J. Seddon, P. Francis, S. George, et al. (2007). JAMA. Cited 337 times. https://doi.org/10.1001/JAMA.297.16.1793

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

S. Raychaudhuri, O. Iartchouk, Kimberly A. Chin, et al. (2011). Nature genetics. Cited 331 times. https://doi.org/10.1038/ng.976

Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.

Robyn C Reynolds, M. Hartnett, John P. Atkinson, et al. (2009). Investigative ophthalmology & visual science. Cited 307 times. https://doi.org/10.1167/iovs.09-3928

Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.

J. Seddon, Robyn C Reynolds, J. Maller, et al. (2009). Investigative ophthalmology & visual science. Cited 302 times. https://doi.org/10.1167/iovs.08-3064

Evaluation of the clinical age-related maculopathy staging system.

J. Seddon, Sanjay Sharma, R. Adelman. (2006). Ophthalmology. Cited 287 times. https://doi.org/10.1016/J.OPHTHA.2005.11.001

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Yi Yu, T. Bhangale, J. Fagerness, et al. (2011). Human Molecular Genetics. Cited 272 times. https://doi.org/10.1093/hmg/ddr270

Meta-analysis of genome scans of age-related macular degeneration.

S. Fisher, G. Abecasis, B. Yashar, et al. (2005). Human molecular genetics. Cited 254 times. https://doi.org/10.1093/HMG/DDI230

A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.

J. Seddon, S. Santangelo, K. Book, et al. (2003). American journal of human genetics. Cited 230 times. https://doi.org/10.1086/378505

Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors.

J. Seddon, Robyn C Reynolds, Yi Yu, et al. (2011). Ophthalmology. Cited 196 times. https://doi.org/10.1016/j.ophtha.2011.04.029

Histopathological Insights Into Choroidal Vascular Loss in Clinically Documented Cases of Age-Related Macular Degeneration.

J. Seddon, J. Seddon, D. Mcleod, et al. (2016). JAMA ophthalmology. Cited 181 times. https://doi.org/10.1001/jamaophthalmol.2016.3519

Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies

G. Mckay, Chris C Patterson, U. Chakravarthy, et al. (2011). Human Mutation. Cited 144 times. https://doi.org/10.1002/humu.21577

Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration.

Robyn C Reynolds, B. Rosner, J. Seddon. (2010). Ophthalmology. Cited 143 times. https://doi.org/10.1016/j.ophtha.2010.07.009

Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study.

B. Merle, Rachel E. Silver, B. Rosner, et al. (2015). The American journal of clinical nutrition. Cited 133 times. https://doi.org/10.3945/ajcn.115.111047

Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models.

Yi Yu, Robyn C Reynolds, B. Rosner, et al. (2012). Investigative ophthalmology & visual science. Cited 120 times. https://doi.org/10.1167/iovs.11-8657

Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration.

Yi Yu, Robyn C Reynolds, J. Fagerness, et al. (2011). Investigative ophthalmology & visual science. Cited 115 times. https://doi.org/10.1167/iovs.10-7070

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

D. Kavanagh, Yi Yu, E. C. Schramm, et al. (2015). Human Molecular Genetics. Cited 113 times. https://doi.org/10.1093/hmg/ddv091

Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications.

J. Seddon, Robyn C Reynolds, H. R. Shah, et al. (2011). Ophthalmology. Cited 111 times. https://doi.org/10.1016/j.ophtha.2010.12.020

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.

G. Mckay, G. Silvestri, U. Chakravarthy, et al. (2011). American journal of epidemiology. Cited 111 times. https://doi.org/10.1093/aje/kwr015

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Yi Yu, M. Triebwasser, E. Wong, et al. (2014). Human molecular genetics. Cited 102 times. https://doi.org/10.1093/hmg/ddu226

Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates.

J. Seddon, Rachel E. Silver, Manlik Kwong, et al. (2015). Investigative ophthalmology & visual science. Cited 100 times. https://doi.org/10.1167/iovs.14-15841

CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration.

J. Seddon, S. George, B. Rosner, et al. (2006). Human heredity. Cited 99 times. https://doi.org/10.1016/J.AJO.2006.11.013

Optical Coherence Tomography Features Preceding the Onset of Advanced Age-Related Macular Degeneration

Daniela Ferrara, Rachel E. Silver, R. Louzada, et al. (2017). Investigative Ophthalmology & Visual Science. Cited 95 times. https://doi.org/10.1167/iovs.17-21696

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

L. Sobrin, S. Ripke, Yi Yu, et al. (2012). Ophthalmology. Cited 84 times. https://doi.org/10.1016/j.ophtha.2012.03.014

Dietary omega-3 fatty acids, other fat intake, genetic susceptibility, and progression to incident geographic atrophy.

Robyn C Reynolds, B. Rosner, J. Seddon. (2013). Ophthalmology. Cited 81 times. https://doi.org/10.1016/j.ophtha.2012.10.020

C-reactive protein and homocysteine are associated with dietary and behavioral risk factors for age-related macular degeneration.

J. Seddon, G. Gensler, M. Klein, et al. (2006). Nutrition. Cited 76 times. https://doi.org/10.1016/J.NUT.2005.12.004

ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration.

L. Sobrin, Robyn C Reynolds, Yi Yu, et al. (2011). American journal of ophthalmology. Cited 75 times. https://doi.org/10.1016/j.ajo.2010.08.015

Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration

J. Seddon, Robyn C Reynolds, B. Rosner. (2010). Molecular Vision. Cited 74 times.

C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration.

J. Seddon, G. Gensler, B. Rosner. (2010). Ophthalmology. Cited 73 times. https://doi.org/10.1016/j.ophtha.2009.11.020

Evaluation of plasma homocysteine and risk of age-related macular degeneration.

J. Seddon, G. Gensler, M. Klein, et al. (2006). American journal of ophthalmology. Cited 73 times. https://doi.org/10.1016/J.AJO.2005.07.059

Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies.

J. Seddon, Robyn C Reynolds, B. Rosner. (2009). Investigative ophthalmology & visual science. Cited 69 times. https://doi.org/10.1167/iovs.08-2514

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.

M. Triebwasser, E. Roberson, Yi Yu, et al. (2015). Investigative ophthalmology & visual science. Cited 68 times. https://doi.org/10.1167/iovs.15-17432

Choriocapillaris dropout in early age-related macular degeneration.

G. Lutty, D. Mcleod, I. Bhutto, et al. (2020). Experimental eye research. Cited 67 times. https://doi.org/10.1016/J.EXER.2020.107939

Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions – The Weisenfeld Award Lecture

J. Seddon. (2017). Investigative Ophthalmology & Visual Science. Cited 66 times. https://doi.org/10.1167/iovs.17-23544

Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

S. Raychaudhuri, S. Ripke, Mingyao Li, et al. (2010). Nature Genetics. Cited 59 times. https://doi.org/10.1038/ng0710-553

Three New Genetic Loci (R1210C in CFH, Variants in COL8A1 and RAD51B) Are Independently Related to Progression to Advanced Macular Degeneration

J. Seddon, Robyn C Reynolds, Yi Yu, et al. (2014). PLoS ONE. Cited 58 times. https://doi.org/10.1371/journal.pone.0087047

Kidney function, albuminuria and age-related macular degeneration in NHANES III.

D. Weiner, H. Tighiouart, Robyn C Reynolds, et al. (2011). Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. Cited 55 times. https://doi.org/10.1093/ndt/gfr022

Associations Between Vitamin D Intake and Progression to Incident Advanced Age-Related Macular Degeneration

B. Merle, Rachel E. Silver, B. Rosner, et al. (2017). Investigative Ophthalmology & Visual Science. Cited 52 times. https://doi.org/10.1167/iovs.17-21673

Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD

Erin K. Wagner, S. Raychaudhuri, M. Villalonga, et al. (2016). Scientific Reports. Cited 51 times. https://doi.org/10.1038/srep31531

Response to AREDS supplements according to genetic factors: survival analysis approach using the eye as the unit of analysis

J. Seddon, Rachel E. Silver, B. Rosner. (2016). British Journal of Ophthalmology. Cited 51 times. https://doi.org/10.1136/bjophthalmol-2016-308624

Dietary folate, B vitamins, genetic susceptibility and progression to advanced nonexudative age-related macular degeneration with geographic atrophy: a prospective cohort study.

B. Merle, Rachel E. Silver, B. Rosner, et al. (2016). The American journal of clinical nutrition. Cited 50 times. https://doi.org/10.3945/AJCN.115.117606

Validation of a prediction algorithm for progression to advanced macular degeneration subtypes.

J. Seddon, Robyn C Reynolds, Yi Yu, et al. (2013). JAMA ophthalmology. Cited 50 times. https://doi.org/10.1001/jamaophthalmol.2013.2578

Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.

J. Seddon, B. Rosner. (2019). American journal of ophthalmology. Cited 43 times. https://doi.org/10.1016/j.ajo.2018.10.022

Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration.

Daniela Ferrara, J. Seddon. (2015). JAMA ophthalmology. Cited 43 times. https://doi.org/10.1001/jamaophthalmol.2015.0814

Predictors of Response to Intravitreal Anti-Vascular Endothelial Growth Factor Treatment of Age-Related Macular Degeneration.

Anjali R. Shah, Steven L. Williams, C. Baumal, et al. (2015). American journal of ophthalmology. Cited 42 times. https://doi.org/10.1016/j.ajo.2015.11.033

Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study.

I. Peter, G. Huggins, J. Ordovás, et al. (2011). American journal of ophthalmology. Cited 40 times. https://doi.org/10.1016/j.ajo.2011.05.016

Phenotype and genotype correlations in two best families.

J. Seddon, Sanjay Sharma, Sandy Chong, et al. (2003). Ophthalmology. Cited 40 times. https://doi.org/10.1016/S0161-6420(03)00575-X

Deep ensemble learning for automated non-advanced AMD classification using optimized retinal layer segmentation and SD-OCT scans

Mousa Moradi, Yu Chen, Xian Du, et al. (2023). Computers in biology and medicine. Cited 39 times. https://doi.org/10.1016/j.compbiomed.2022.106512

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

L. Sobrin, J. Maller, B. Neale, et al. (2009). European Journal of Human Genetics. Cited 32 times. https://doi.org/10.1038/ejhg.2009.185

Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration

A. Java, P. Baciu, R. Widjajahakim, et al. (2020). Translational Vision Science & Technology. Cited 29 times. https://doi.org/10.1167/tvst.9.9.37

Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration

J. Seddon, R. Widjajahakim, B. Rosner. (2020). Investigative Ophthalmology & Visual Science. Cited 28 times. https://doi.org/10.1167/iovs.61.14.32

Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size

B. Merle, B. Rosner, J. Seddon. (2020). Investigative Ophthalmology & Visual Science. Cited 27 times. https://doi.org/10.1167/iovs.61.5.17

Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration

Yi Yu, Erin K. Wagner, E. Souied, et al. (2015). bioRxiv. Cited 23 times. https://doi.org/10.1101/034173

A Discordant Sib-Pair Linkage Analysis of Age-Related Macular Degeneration

S. Santangelo, Chen-Hsing Yen, S. Haddad, et al. (2004). Ophthalmic Genetics. Cited 21 times. https://doi.org/10.1080/13816810490967944

Association Between Perifoveal Drusen Burden Determined by OCT and Genetic Risk in Early and Intermediate Age-Related Macular Degeneration

J. Seddon, James Dossett, R. Widjajahakim, et al. (2019). Investigative Ophthalmology & Visual Science. Cited 16 times. https://doi.org/10.1167/iovs.19-27475

The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade

O. McMahon, T. Hallam, S. Patel, et al. (2021). Human Molecular Genetics. Cited 15 times. https://doi.org/10.1093/hmg/ddab086

Automated discovery and quantification of image-based complex phenotypes: a twin study of drusen phenotypes in age-related macular degeneration.

G. Quellec, S. Russell, J. Seddon, et al. (2011). Investigative ophthalmology & visual science. Cited 15 times. https://doi.org/10.1167/iovs.10-6793

(Epi)Genetic Analyses of Age-Related Macular Degeneration: Case-Control and Discordant Twin Studies

John N. Hutchinson, J. Fagerness, Andrew W. Kirby, et al. (2014). Human Heredity. Cited 14 times. https://doi.org/10.1159/000362814

Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) in Advanced Age-related Macular Degeneration (AMD).

A. Java, P. Nicola, C. Schroeder Molly, et al. (2022). Human molecular genetics. Cited 7 times. https://doi.org/10.1093/hmg/ddac103

Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration

T. Huan, Shun-Yun Cheng, Bo Tian, et al. (2022). Ophthalmology Science. Cited 5 times. https://doi.org/10.1016/j.xops.2022.100206

A Screening Tool for Self-Evaluation of Risk for Age-Related Macular Degeneration: Validation in a Spanish Population

A. García-Layana, Maribel López-Gálvez, J. Garcia-Arumi, et al. (2022). Translational Vision Science & Technology. Cited 1 times. https://doi.org/10.1167/tvst.11.6.23