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Author Details

Joanna E Merriam
Columbia University
2003
29
23
PMIDPaper TitleJournal TitlePublished Year
26691988A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Nat Genet2016
25545482New best1 mutations in autosomal recessive bestrophinopathy.Retina2015
25680934A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).Neuromolecular Med2015
24352742Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.Doc Ophthalmol2014
24899048Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.Hum Mol Genet2014
24665005Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.Hum Mutat2014
23455636Seven new loci associated with age-related macular degeneration.Nat Genet2013
22509097Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration.Mol Vis2012
22705344Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.Ophthalmology2012
21391811Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians.Ophthalmic Genet2011
21825189Complement factor H 402H variant and reticular macular disease.Arch Ophthalmol2011
21665990Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.Hum Mol Genet2011
20022638The complement component 5 gene and age-related macular degeneration.Ophthalmology2010
21072178The ERCC6 gene and age-related macular degeneration.PLoS One2010
21179236Analysis of candidate genes for macular telangiectasia type 2.Mol Vis2010
20385826Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).Proc Natl Acad Sci U S A2010
20378180Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.Ophthalmology2010
19006237Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.Hum Mutat2009
18172114Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.Invest Ophthalmol Vis Sci2008
19001225Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H.Arch Ophthalmol2008
18502988ATM gene variants in patients with idiopathic perifoveal telangiectasia.Invest Ophthalmol Vis Sci2008
18161617Pseudo-vitelliform macular detachment and cuticular drusen: exclusion of 6 candidate genes.Ophthalmic Genet2007
16518403Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.Nat Genet2006
28950782Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: Characterization, ethnic distribution and evolutionary implications.Ann Med2006
17438673Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.Ann Med2006
15710816Automated detection of macular drusen using geometric background leveling and threshold selection.Arch Ophthalmol2005
15870199A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.Proc Natl Acad Sci U S A2005
15370542Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1.Ophthalmic Genet2004
13129881The effect of incisions for cataract on corneal curvature.Ophthalmology2003
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Co-authored papers 27
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Mount Sinai School of Medicine
Co-authored papers 14
Gaetano R Barile
& Throat Hospital
Co-authored papers 11
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Erasmus Medical Center
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University of Oxford
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National Cancer Institute
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Royal Victorian Eye and Ear Hospital
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Massachusetts Eye and Ear Infirmary
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Gabri??lle H S Buitendijk
Erasmus Medical Center
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Bert Gold
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Jesen Fagerness
Center for Human Genetic Research, Massachusetts General Hospital
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Robyn Reynolds
Tufts University School of Medicine and Tufts Medical Center
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Mark J Daly
Massachusetts General Hospital
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Johanna M Seddon
University of Massachusetts Chan Medical School
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Stephan Ripke
Massachusetts General Hospital and Harvard Medical School
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Andrew J Lotery
University of Southampton
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Richard F Spaide
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