Jonathan L. Haines

Jonathan L. Haines's AcademicInfluence.com Rankings

Jonathan L. Haines

Biology

#4528

World Rank

#6745

Historical Rank

Genetics

#375

World Rank

#437

Historical Rank

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Biology

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Jonathan L. Haines's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. (1993) (8659)
Finding the missing heritability of complex diseases (2009) (7749)
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis (1993) (6694)
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease (1995) (4114)
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease (2013) (3484)
Effects of Age, Sex, and Ethnicity on the Association Between Apolipoprotein E Genotype and Alzheimer Disease: A Meta-analysis (1997) (3245)
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis (2011) (2511)
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. (1997) (2488)
Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration (2005) (2429)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis (2009) (2366)
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
Functional impact of global rare copy number variation in autism spectrum disorders (2010) (1891)
Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease (1994) (1772)
Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007) (1382)
Risk alleles for multiple sclerosis identified by a genomewide study. (2007) (1380)
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
The genetic defect causing familial Alzheimer's disease maps on chromosome 21. (1987) (1180)
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis (2013) (1170)
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor (1993) (1146)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia (2011) (1071)
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants (2015) (1024)
Common genetic variants on 5p14.1 associate with autism spectrum disorders (2009) (970)
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders (2014) (814)
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci (2009) (799)
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data (2013) (763)
Seven New Loci Associated with Age-Related Macular Degeneration (2013) (741)
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex (1996) (681)
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
Von HippelLindau disease maps to the region of chromosome 3 associated with renal cell carcinoma (1988) (636)
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. (2002) (601)
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future (2013) (596)
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility (2019) (589)
Isolation of a novel gene underlying batten disease, CLN3 (1995) (579)
A genome-wide scan for common alleles affecting risk for autism (2010) (567)
Genome-wide association study identifies a novel breast cancer susceptibility locus at 6q25.1 (2009) (544)
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. (2003) (538)
The PhenX Toolkit: Get the Most From Your Measures (2011) (520)
Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration (2010) (508)
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 (1992) (472)
Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease (2010) (455)
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22 (1987) (443)
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. (2010) (426)
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder (1990) (413)
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. (1991) (396)
Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. (1997) (377)
An autosomal genomic screen for autism. (1999) (353)
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease (1992) (347)
Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) (346)
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. (2006) (345)
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. (2013) (345)
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. (2004) (334)
Age at onset in two common neurodegenerative diseases is genetically controlled. (2002) (332)
GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease (2013) (332)
Quality Control Procedures for Genome‐Wide Association Studies (2011) (330)
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. (2000) (327)
Cardiac Sodium Channel (SCN5A) Variants Associated with Atrial Fibrillation (2008) (325)
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. (2010) (316)
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. (2006) (310)
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis (2012) (308)
A high-density screen for linkage in multiple sclerosis. (2005) (308)
An autosomal genomic screen for autism. Collaborative linkage study of autism. (1999) (304)
Complete genomic screen in Parkinson disease: evidence for multiple genes. (2001) (302)
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia (2017) (301)
HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. (2003) (299)
Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias (2014) (295)
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. (1990) (292)
Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group. (1998) (290)
A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease (2017) (288)
Analysis of European mitochondrial haplogroups with Alzheimer disease risk (2004) (283)
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus (2013) (279)
Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score (2017) (277)
Common variants at MS 4 A 4 / MS 4 A 6 E , CD 2 AP , CD 33 and EPHA 1 are associated with late-onset Alzheimer ’ s disease (2011) (274)
Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma (2012) (273)
Genetics, statistics and human disease: analytical retooling for complexity. (2004) (270)
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders (2014) (266)
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid β-protein gene (1987) (264)
Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis (2004) (263)
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. (2009) (263)
Class II HLA interactions modulate genetic risk for multiple sclerosis (2015) (262)
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability (2016) (255)
Human gene for torsion dystonia located on chromosome 9q32-q34 (1989) (249)
New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) (246)
A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN (2015) (246)
Meta-analysis of genome scans of age-related macular degeneration. (2005) (245)
Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants (2012) (232)
A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1 (2009) (226)
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. (2003) (224)
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. (1998) (217)
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 (1994) (217)
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. (2004) (214)
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita (1992) (213)
Genome-wide analysis of multiethnic cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma (2014) (212)
Parkin mutations and susceptibility alleles in late‐onset Parkinson's disease (2003) (212)
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation (2001) (210)
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. (2002) (210)
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. (2012) (208)
The genetic epidemiology of multiple sclerosis (2003) (208)
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism (2011) (208)
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
Identification of Novel Genes in Late-Onset Alzheimer's Disease (2000) (203)
Evidence supporting WNT2 as an autism susceptibility gene. (2001) (201)
Analysis of the RELN gene as a genetic risk factor for autism (2005) (201)
The role of the CD58 locus in multiple sclerosis (2009) (200)
Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. (1992) (200)
Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study (2006) (198)
Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems (2014) (196)
Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. (2006) (194)
Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. (2007) (194)
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2019) (194)
A second locus for Rieger syndrome maps to chromosome 13q14. (1996) (191)
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma (2015) (190)
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. (2001) (190)
Incorporating language phenotypes strengthens evidence of linkage to autism. (2001) (188)
Apolipoprotein E, survival in Alzheimer's disease patients, and the competing risks of death and Alzheimer's disease (1995) (188)
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (186)
Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau (2018) (186)
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. (2004) (182)
A second major histocompatibility complex susceptibility locus for multiple sclerosis (2007) (181)
Assessment of the genetic variance of late-onset Alzheimer's disease (2016) (179)
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma (2014) (176)
Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates (2005) (175)
Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. (1992) (175)
Construction of a GT polymorphism map of human 9q. (1992) (173)
Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come. (2010) (172)
Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014) (172)
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma (2018) (171)
Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration (2013) (171)
Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2018) (171)
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. (2012) (171)
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. (2011) (169)
Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study (2005) (167)
Genetic linkage studies in Alzheimer's disease families (1988) (167)
Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk (2013) (163)
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. (2011) (163)
SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (161)
Genetic basis for clinical expression in multiple sclerosis. (2002) (159)
Meta-analysis of the association between variants in SORL1 and Alzheimer disease. (2011) (159)
The Next PAGE in Understanding Complex Traits: Design for the Analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study (2011) (158)
The expanding genetic overlap between multiple sclerosis and type I diabetes (2009) (157)
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups (2006) (157)
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. (2001) (156)
Rapidly progressive Alzheimer's disease features distinct structures of amyloid-β. (2015) (156)
Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature (1986) (156)
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy (2002) (155)
Novel late-onset Alzheimer disease loci variants associate with brain gene expression (2012) (155)
Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. (1988) (153)
A linkage disequilibrium map of the 1‐Mb 15q12 GABAA receptor subunit cluster and association to autism (2004) (153)
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. (2003) (152)
Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls. (2013) (149)
Transethnic genome-wide scan identifies novel Alzheimer's disease loci (2017) (149)
Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities (2010) (148)
A highly polymorphic locus very tightly linked to the Huntington's disease gene (1988) (148)
A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. (1997) (145)
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis (1993) (143)
Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
Apolipoprotein E controls the risk and age at onset of Parkinson disease (2004) (140)
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14 (1995) (140)
Genetic susceptibility to Alzheimer disease. (1995) (136)
Paraoxonase cluster polymorphisms are associated with sporadic ALS (2006) (135)
CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis (2000) (133)
Genome-wide scan for adult onset primary open angle glaucoma. (2000) (133)
Identification of Genomic Predictors of Atrioventricular Conduction: Using Electronic Medical Records as a Tool for Genome Science (2010) (133)
Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid precursor protein gene (1992) (133)
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics (2017) (133)
Recurrent Tissue-Specific mtDNA Mutations Are Common in Humans (2013) (132)
Imputation and quality control steps for combining multiple genome-wide datasets (2014) (130)
Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. (2006) (129)
Frequency of functionally important beta-2 adrenoceptor polymorphisms varies markedly among African-American, Caucasian and Chinese individuals. (1999) (125)
Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. (2000) (124)
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression (2020) (124)
Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease (2015) (124)
Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor (2009) (123)
Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity. (2000) (123)
Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis. (2002) (123)
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. (2007) (123)
Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere (1987) (122)
A meta-analysis of whole genome linkage screens in multiple sclerosis (2003) (122)
C3 R102G polymorphism increases risk of age-related macular degeneration. (2008) (121)
Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13. (2003) (118)
Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use. (2010) (118)
Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population. (2011) (117)
Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers (2017) (117)
Missense variant in TREML2 protects against Alzheimer's disease (2014) (115)
A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease (1990) (115)
A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death (2014) (114)
Genetic linkage map of human chromosome 21. (1988) (113)
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. (1999) (113)
Complete Genomic Screen in Late-Onset Familial Alzheimer’s Disease (1998) (113)
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity (2008) (112)
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk (2011) (112)
Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. (2006) (111)
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. (1986) (108)
A common variant near TGFBR3 is associated with primary open angle glaucoma (2015) (108)
Refining genetic associations in multiple sclerosis (2008) (108)
Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives (1995) (107)
Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci (2009) (107)
Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. (1998) (107)
A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. (2004) (106)
Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. (2012) (105)
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries (2021) (105)
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. (2007) (105)
A DNA segment encoding two genes very tightly linked to Huntington's disease. (1987) (104)
Association between apolipoprotein E genotype and Alzheimer disease in African American subjects. (2002) (103)
Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. (2003) (103)
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. (1998) (103)
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci (2017) (103)
Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. (1994) (101)
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 (2013) (101)
Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. (1997) (101)
The Alzheimer's Disease Sequencing Project: Study design and sample selection (2017) (101)
Association of MAPT haplotypes with Alzheimer’s disease risk and MAPT brain gene expression levels (2014) (100)
GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease (2006) (100)
Genome-wide association study and meta-analysis of intraocular pressure (2013) (99)
Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism. (1988) (99)
Genetics and pathogenesis of multiple sclerosis. (2009) (99)
Mitochondrial DNA Polymorphism A4917G Is Independently Associated with Age-Related Macular Degeneration (2008) (99)
Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. (2009) (98)
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (2018) (98)
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. (2008) (97)
Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. (2005) (97)
A meta-analysis of genomic screens in multiple sclerosis. The Transatlantic Multiple Sclerosis Genetics Cooperative. (2001) (96)
Mapping of the Disease Locus and Identification of ADAMTS10 As a Candidate Gene in a Canine Model of Primary Open Angle Glaucoma (2011) (96)
Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations (2018) (95)
Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. (2003) (95)
Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans (2014) (92)
The use of animal models in the study of complex disease: all else is never equal or why do so many human studies fail to replicate animal findings? (2004) (91)
Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. (2014) (91)
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma (2018) (90)
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. (1990) (89)
Multiple susceptibility loci for multiple sclerosis. (2002) (89)
APOE epsilon variation in multiple sclerosis susceptibility and disease severity (2006) (89)
An α-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease (1999) (88)
Recombination events suggest potential sites for the Huntington's disease gene (1989) (88)
Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus. (2001) (88)
No Genetic Effect of α1-Antichymotrypsin in Alzheimer Disease (1996) (88)
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. (2004) (87)
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. (2004) (86)
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis. (2020) (86)
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (2021) (85)
Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records (2010) (84)
Distribution of Optineurin Sequence Variations in an Ethnically Diverse Population of Low-tension Glaucoma Patients From the United States (2006) (82)
A genetic linkage map of the long arm of human chromosome 22. (1989) (82)
Human β2‐adrenergic receptor polymorphisms: No association with essential hypertension in black or white Americans (2000) (81)
Linkage localization of X-linked Charcot-Marie-Tooth disease. (1993) (81)
Memory self-appraisal in middle-aged and older adults with the apolipoprotein E-4 allele. (1999) (81)
Vitamin D receptor and Alzheimer's disease: a genetic and functional study (2012) (79)
Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer’s disease (2018) (79)
The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1 (2012) (78)
Spinocerebellar ataxia in a large kindred (1984) (78)
Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. (1991) (78)
Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians (2013) (77)
Meta‐analysis of Genome‐Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology (2015) (76)
Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10 (2009) (76)
CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. (2013) (76)
Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease (2006) (75)
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process (2014) (75)
Polymerase chain reaction amplification of a measles virus sequence from human temporal bone sections with active otosclerosis. (1996) (75)
Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk (2011) (75)
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process (2014) (75)
Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis (2004) (73)
Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. (2007) (72)
IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci (2010) (72)
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology (2014) (72)
eMERGEing progress in genomics—the first seven years (2014) (71)
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality (2011) (71)
Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17. (1988) (71)
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. (1991) (71)
A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age. (1992) (70)
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers. (1994) (70)
Familial Alzheimer's disease: Progress and problems (1989) (70)
Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility (2010) (70)
Correcting Away the Hidden Heritability (2011) (70)
PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients (2001) (69)
Vitamin D from different sources is inversely associated with Parkinson disease (2015) (69)
Examination of association of genes in the serotonin system to autism (2009) (69)
Genetic Analysis of Complex Disease (2006) (69)
Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study. (2003) (69)
A Multi-Investigator/Institutional DNA Bank for AIDS-Related Human Genetic Studies: AACTG Protocol A5128 (2003) (68)
Increased Prevalence of the HFE C282Y Hemochromatosis Allele in Women with Breast Cancer (2004) (68)
Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans (2017) (67)
Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. (1995) (66)
C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease (2013) (66)
Genetic mapping of a mouse modifier gene that can prevent ALS onset. (2000) (65)
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. (1996) (64)
New insights on the genetic etiology of Alzheimer’s and related dementia (2020) (64)
Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17. (1989) (64)
Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis (2004) (64)
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12 (2004) (64)
Analysis of the indel at the ARMS2 3′UTR in age-related macular degeneration (2010) (64)
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes (2004) (64)
Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases (2006) (63)
Joint effects of smoking history and APOE genotypes in age-related macular degeneration. (2005) (63)
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. (2008) (63)
Association study of Parkin gene polymorphisms with idiopathic Parkinson disease. (2003) (62)
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3 (2007) (61)
The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical Variables (2013) (60)
Genetic-based prediction of disease traits: prediction is very difficult, especially about the future† (2014) (60)
Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy (2006) (60)
Genetic variants and functional pathways associated with resilience to Alzheimer’s disease (2020) (59)
Genetic analysis of biological pathway data through genomic randomization (2011) (59)
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. (2015) (59)
A second-generation genomic screen for multiple sclerosis. (2004) (59)
Alzheimer's disease and apolipoprotein e‐4 allele in an amish population (1996) (58)
Early Detection of Alzheimer's Disease by Combining Apolipoprotein E and Neuroimaging a (1996) (58)
Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with hypertension, alcohol intake, and cigarette smoking. (2011) (58)
GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis (2016) (58)
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance (1998) (58)
Clinical, Neuropathological and Genetic Aspects of the Tuberous Sclerosis Complex (1995) (58)
Osteopontin polymorphisms and disease course in multiple sclerosis (2003) (57)
Neurofibromatosis type 2 appears to be a genetically homogeneous disease. (1992) (57)
Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. (2014) (57)
Size matters: How population size influences genotype-phenotype association studies in anonymized data (2014) (56)
LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. (2011) (56)
A Major Histocompatibility Class I Locus Contributes to Multiple Sclerosis Susceptibility Independently from HLA-DRB1*15:01 (2010) (56)
Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. (2010) (55)
Using Genetic Variation and Environmental Risk Factor Data to Identify Individuals at High Risk for Age-Related Macular Degeneration (2011) (55)
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (2018) (55)
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. (2014) (55)
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism (2014) (54)
Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium? (1994) (54)
Multifactor dimensionality reduction reveals gene–gene interactions associated with multiple sclerosis susceptibility in African Americans (2006) (54)
Genetic variation in TP53 and risk of breast cancer in a population-based case control study. (2007) (54)
Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. (2012) (54)
PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation (2014) (54)
Improved predictive testing for Huntington disease by using three linked DNA markers. (1988) (53)
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans (2016) (53)
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits (2017) (53)
Complement factor H increases risk for atrophic age-related macular degeneration. (2006) (53)
Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). (1994) (52)
The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma (2012) (51)
Sex differences in the genetic predictors of Alzheimer's pathology. (2019) (51)
Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States (2013) (51)
CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis. (2010) (50)
Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil (2004) (50)
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants (2015) (49)
The distinction between juvenile and adult-onset primary open-angle glaucoma. (1996) (49)
Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci (2013) (49)
Clustering of multiallele DNA markers near the Huntington's disease gene. (1989) (49)
Presenilin-1 polymorphism and Alzheimer's disease (1996) (49)
Huntington disease: no evidence for locus heterogeneity. (1989) (49)
Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. (2011) (49)
Familial essential tremor with apparent autosomal dominant inheritance: Should we also consider other inheritance modes? (2006) (48)
Automated extraction of clinical traits of multiple sclerosis in electronic medical records (2013) (48)
Rare complement factor H variant associated with age-related macular degeneration in the Amish. (2014) (47)
A genetic linkage map of chromosome 17. (1990) (47)
Advances in the genomics of common eye diseases. (2013) (47)
Genetic Factors in Nonsmokers with Age‐Related Macular Degeneration Revealed Through Genome‐Wide Gene‐Environment Interaction Analysis (2011) (47)
Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry (2019) (46)
Identification of a Novel Locus for Febrile Seizures and Epilepsy on Chromosome 21q22 (2006) (46)
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. (1989) (46)
Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis (1998) (45)
Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease. (1992) (45)
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. (2001) (44)
Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans. (1993) (44)
Defining the autism minimum candidate gene region on chromosome 7 (2003) (44)
Age-at-Onset in Late Onset Alzheimer Disease is Modified by Multiple Genetic Loci (2014) (44)
An index marker map of chromosome 9 provides strong evidence for positive interference. (1993) (44)
X‐linked recessive Charcot–Marie‐Tooth neuropathy: Clinical and genetic study (1992) (44)
Dense linkage disequilibrium mapping in the 15q11–q13 maternal expression domain yields evidence for association in autism (2003) (44)
Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14 (2007) (43)
An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3 (2009) (43)
A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease (2007) (43)
Autosomal Dominant Lateral Temporal Epilepsy: Two Families with Novel Mutations in the LGI1 Gene (2004) (42)
Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. (2003) (42)
A genome‐wide linkage analysis of dementia in the Amish (2006) (42)
Genome‐Wide Association and Linkage Study in the Amish Detects a Novel Candidate Late‐Onset Alzheimer Disease Gene (2012) (42)
Lack of association between autism and SLC25A12. (2006) (42)
Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium (2016) (41)
Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses (2016) (41)
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. (1988) (41)
Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium (2016) (41)
Sex-specific genetic predictors of Alzheimer’s disease biomarkers (2018) (40)
No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease (1998) (40)
FE65 Binds Teashirt, Inhibiting Expression of the Primate-Specific Caspase-4 (2009) (40)
Lack of association of VEGF promoter polymorphisms with sporadic ALS (2006) (39)
Presenilin-1 polymorphism and Alzheimer's disease (1996) (39)
Rarity of the Alzheimer disease-protective APP A673T variant in the United States. (2015) (39)
Further evidence linking late-onset Alzheimer disease with chromosome 12. (1999) (39)
Dense linkage disequilibrium mapping in the 15q11–q13 maternal expression domain yields evidence for association in autism (2003) (39)
Association between bleomycin hydrolase and Alzheimer's disease in caucasians (1998) (39)
CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis. Multiple Sclerosis Genetics Group. (2000) (39)
Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration. (2007) (38)
Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes (2006) (38)
Norrie disease gene is distinct from the monoamine oxidase genes. (1989) (38)
Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K) (1999) (38)
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. (1999) (38)
Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset a (1991) (38)
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α‐subunit mutations (2002) (38)
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males (2011) (38)
Variation within DNA repair pathway genes and risk of multiple sclerosis. (2010) (38)
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. (2019) (37)
Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders (2013) (37)
Genome-Wide Association Study of Late-Onset Alzheimer Disease Identifies Disease-Associated Variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1 (2011) (37)
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation (2005) (36)
Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease (2016) (36)
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport (2017) (36)
Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis (2012) (36)
Do Alterations in Mitochondrial DNA Play a Role in Breast Carcinogenesis? (2010) (36)
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci (2012) (36)
Inverse association of female hormone replacement therapy with age-related macular degeneration and interactions with ARMS2 polymorphisms. (2010) (36)
A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis (2019) (36)
An autosomal genomic screen for dementia in an extended Amish family (2005) (36)
Phenotypic heterogeneity in families with age-related macular degeneration. (1996) (35)
Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration. (2008) (35)
Incorporating language phenotypes strengthens evidence of linkage to autism. (2001) (35)
Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness (2010) (35)
Overall Diet Quality and Age-Related Macular Degeneration (2010) (34)
Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes (2004) (34)
Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants (2017) (34)
Linkage and association analysis of chromosome 19q13 in multiple sclerosis (2001) (34)
Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. (2015) (34)
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. (1993) (33)
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. (1994) (33)
SNPs in Multi-Species Conserved Sequences (MCS) as useful markers in association studies: a practical approach (2007) (33)
Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk (2016) (33)
A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains. (2017) (33)
Using the PhenX Toolkit to Add Standard Measures to a Study (2011) (33)
A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility (2010) (33)
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (2018) (33)
No association or linkage between an intronic polymorphism of presenilin‐1 and sporadic or late‐onset familial Alzheimer disease (1997) (33)
The Carnitine Shuttle Pathway is Altered in Patients With Neovascular Age-Related Macular Degeneration (2018) (32)
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. (2005) (32)
Maternal lineages and Alzheimer disease risk in the Old Order Amish (2005) (32)
Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease (2012) (32)
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1 (1994) (32)
A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium (2016) (31)
Association of TREM2 variants with Alzheimer's disease in African-Americans: For the Alzheimer's Disease Genetics Consortium (ADGC) (2013) (31)
Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease (2018) (31)
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma (2018) (30)
CHOROIDAL VASCULARITY INDEX AND CHOROIDAL THICKNESS IN EYES WITH RETICULAR PSEUDODRUSEN. (2017) (30)
APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer’s Disease Risk in a Multiracial Sample (2019) (30)
Disease gene prioritization by integrating tissue-specific molecular networks using a robust multi-network model (2016) (29)
Mapping of the gene for X‐linked dominant Charcot‐Marie‐Tooth neuropathy (1992) (29)
The apolipoprotein E E4 allele and sex-specific risk of Alzheimer's disease. (1995) (29)
No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians (1996) (29)
Sequence variation in the transforming growth factor-β1 (TGFB1) gene and multiple sclerosis susceptibility (2001) (29)
The α-synuclein gene is not a major risk factor in familial Parkinson disease (1999) (29)
Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma (2008) (29)
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. (2004) (29)
Successful Aging Shows Linkage to Chromosomes 6, 7, and 14 in the Amish (2011) (28)
DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. (2014) (28)
Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration. (2007) (28)
The ubiquilin 1 gene and Alzheimer's disease. (2005) (28)
Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype. (2019) (28)
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration (2020) (28)
Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. (1993) (28)
LIPIN: an interactive data entry and management program for LIPED. (1986) (28)
CALHM1 Polymorphism is not Associated with Late‐onset Alzheimer Disease (2009) (28)
CEPH consortium Map of chromosome 9. (1994) (28)
The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review (2016) (28)
Dissecting trait heterogeneity: a comparison of three clustering methods applied to genotypic data (2006) (28)
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. (1988) (27)
A genetic linkage map of human chromosome 9q. (1992) (27)
Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene. (1989) (27)
Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina. (2013) (27)
Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma (2014) (27)
Heterogeneity at the HLA-DRB 1 locus and risk for multiple sclerosis (2006) (27)
Alzheimer Disease: Perspectives from Epidemiology and Genetics (2018) (26)
Causes of death in huntington disease as reported on death certificates (1986) (26)
Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis (2010) (26)
Resolving the relationship between ApolipoproteinE and depression (2009) (26)
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
Different gene loci for hyperkalemic and hypokalemic periodic paralysis (1991) (26)
A rare mutation in UNC 5 C predisposes to late-onset Alzheimer ’ s disease and increases neuronal cell death (2014) (26)
Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus (2016) (26)
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33 (1998) (26)
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer’s Disease Sequencing Project (2018) (25)
Exploring the association of glyceraldehyde-3-phosphate dehydrogenase gene and Alzheimer disease (2006) (25)
THE ARMS2 A69S VARIANT AND BILATERAL ADVANCED AGE-RELATED MACULAR DEGENERATION (2011) (25)
Linkage analysis of candidate myelin genes in familial multiple sclerosis (1999) (25)
Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease (2004) (25)
Rare Variant APOC3 R19X Is Associated With Cardio-Protective Profiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecture for Genes Linked to Environment Study (2014) (25)
A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis (2010) (24)
Population differences in genetic risk for age-related macular degeneration and implications for genetic testing. (2012) (24)
Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. (1987) (24)
Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease (2015) (24)
Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits (2015) (24)
Confronting complexity in late‐onset Alzheimer disease: application of two‐stage analysis approach addressing heterogeneity and epistasis (2008) (24)
Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease (2016) (23)
Mitochondrial Haplogroup X is associated with successful aging in the Amish (2012) (23)
Heritability of Choroidal Thickness in the Amish. (2016) (23)
Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma (2011) (23)
A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium (2016) (23)
Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity (2013) (23)
Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease (2018) (23)
A Comparative Study on Genetic Heterogeneity in Tuberous Sclerosis: Evidence for One Gene on 9q34 and a Second Gene on 11q22–23 a (1991) (23)
Meta-analysis of the Association Between Variants in SORL 1 and Alzheimer Disease (2011) (23)
Identification and Confirmation of an Exonic Splicing Enhancer Variation in Exon 5 of the Alzheimer Disease Associated PICALM Gene (2012) (22)
Analysis of Single Nucleotide Polymorphisms in the NOS2A Gene and Interaction with Smoking in Age‐Related Macular Degeneration (2010) (22)
Linkage and association of successful aging to the 6q25 region in large Amish kindreds (2013) (22)
Genetic Analysis of Complex Diseases (1997) (22)
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures (2005) (22)
Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study (2004) (22)
Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus (2006) (21)
PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility (2010) (21)
Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis. (2019) (21)
An Attempt to Map Two Genes for Tuberous Sclerosis Using Novel Two‐Point Methods a (1991) (21)
Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease. (2005) (21)
Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis (1998) (21)
A high-resolution linkage map of human 9q34.1. (1993) (21)
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease (2018) (20)
No association between the HLA-A2 allele and Alzheimer disease (1999) (20)
One for all and all for One: Improving replication of genetic studies through network diffusion (2018) (20)
Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation. (2005) (20)
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease (2018) (20)
Analysis of the c‐FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease (1993) (20)
Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures (2006) (20)
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. (1993) (20)
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s disease (2018) (20)
The Impact of the Human Genome Project on Complex Disease (2014) (19)
Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network (2015) (19)
Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1 (2017) (19)
Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals. (2010) (19)
Enhancing the Power of Genetic Association Studies through the Use of Silver Standard Cases Derived from Electronic Medical Records (2013) (19)
Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease (2018) (19)
Chromlook: an interactive program for error detection and mapping in reference linkage data. (1992) (19)
No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. (1996) (18)
Genetic Association Analysis of Drusen Progression (2016) (18)
The genetics of Alzheimer disease--a teasing problem. (1991) (18)
Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ɛ4 (2020) (18)
Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44 (2006) (17)
Lack of association between autism and four heavy metal regulatory genes. (2011) (17)
Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease (2018) (17)
Relationship Between Depressive Symptoms and Cognition in Older, Non-demented African Americans (2014) (17)
Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds (2021) (17)
A prevalence‐based association test for case‐control studies (2008) (17)
Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma (2014) (17)
Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson’s disease (2003) (17)
The alpha-synuclein gene is not a major risk factor in familial Parkinson disease. (1999) (17)
Association of COMT haplotypes and breast cancer risk in caucasian women. (2010) (17)
Effect of heterogeneity on the chromosome 10 risk in late‐onset Alzheimer disease (2007) (16)
Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease (2017) (16)
The Relationship Between Reticular Pseudodrusen and Severity of AMD. (2016) (16)
Problems with genome-wide association studies. (2007) (15)
Bringing the genetics of macular degeneration into focus (2007) (15)
Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes (2008) (15)
Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis (2017) (15)
Using the PhenX Toolkit to Add Standard Measures to a Study (2011) (15)
Methods for analysis in pharmacogenomics: lessons from the Pharmacogenetics Research Network Analysis Group. (2009) (15)
Whole exome sequencing of extreme age-related macular degeneration phenotypes (2016) (15)
Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration. (2014) (14)
DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient (2016) (14)
APOE is not Associated with Alzheimer Disease: a Cautionary tale of Genotype Imputation (2010) (14)
PRNP M129V homozygosity in multiple system atrophy vs. Parkinson’s disease (2008) (14)
Parkinson disease loci in the mid-western Amish (2013) (13)
The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease (2003) (13)
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (2020) (13)
Genotype at polymorphism rs11200638 and HTRA1 expression level. (2010) (13)
Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome. (1995) (13)
Genetic correlations between diabetes and glaucoma: an analysis of continuous and dichotomous phenotypes. (2019) (12)
A population-specific reference panel empowers genetic studies of Anabaptist populations (2017) (12)
Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets (2018) (12)
Complete genomic screen in Parkinson Disease (2001) (12)
Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. (2015) (12)
Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter (1987) (12)
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters (2019) (12)
Association of CYP1B1 Haplotypes and Breast Cancer Risk in Caucasian Women (2009) (12)
A novel ARMS2 splice variant is identified in human retina. (2012) (12)
AMISH EYE STUDY: Baseline Spectral Domain Optical Coherence Tomography Characteristics of Age-Related Macular Degeneration. (2019) (12)
Putting Pleiotropy and Selection Into Context Defines a New Paradigm for Interpreting Genetic Data (2013) (11)
A Genome‐Wide Linkage Screen in the Amish with Parkinson Disease Points to Chromosome 6 (2011) (11)
A comparative analysis of the information content in long and short SAGE libraries (2006) (11)
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish (2006) (11)
Mitochondrial Variation and the Risk of Age-Related Macular Degeneration Across Diverse Populations (2014) (11)
Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models (2015) (11)
Quality Control for the Illumina HumanExome BeadChip (2016) (11)
D2 dopamine receptor A1 allele in Alzheimer disease and aging. (1997) (11)
No Association between α1‐Antichymotrypsin and Familial Alzheimer's Diseases a (1996) (11)
Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies (2015) (11)
Examination of Candidate Exonic Variants for Association to Alzheimer Disease in the Amish (2015) (11)
Retinal Sensitivity Using Microperimetry in Age-Related Macular Degeneration in an Amish Population. (2019) (11)
Clinical Heterogeneity of Familial Spastic Paraplegia Linked to Chromosome 2p21 (1998) (11)
RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways. (2019) (11)
Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis (2006) (11)
Genetic and physical mapping of the GLUR5 glutamate receptor gene on human chromosome 21 (1994) (11)
A genetic linkage map of the chromosome 4 short arm (1993) (10)
Multipoint linkage analysis of spinocerebellar ataxia and markers on chromosome 6 (1986) (10)
Genome‐wide association and multi‐omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women (2022) (10)
Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility. (2011) (10)
Use of local genetic ancestry to assess TOMM40-523′ and risk for Alzheimer disease (2020) (10)
Linkage Heterogeneity in Tuberous Sclerosis (1992) (10)
A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease (2020) (10)
Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). (1989) (10)
Evaluating Power and Type 1 Error in Large Pedigree Analyses of Binary Traits (2013) (10)
Charcot-Marie-Tooth neuropathy related to chromosome 1. (1992) (10)
Exclusion of familial dysautonomia from more than 60% of the genome. (1993) (10)
A Genomic Search for Alzheimer's Disease Genes (2002) (10)
Assay for Transposase‐Accessible Chromatin Using Sequencing (ATAC‐seq) Data Analysis (2017) (10)
The intelligent use and clinical benefits of electronic medical records in multiple sclerosis (2015) (10)
KIAA1462, A Coronary Artery Disease Associated Gene, Is a Candidate Gene for Late Onset Alzheimer Disease in APOE Carriers (2013) (10)
A Major Novel Locus for ALS/FTD on Chromosome 9p21 and its Pathological Correlates (2006) (9)
Overview of Linkage Analysis in Complex Traits (2010) (9)
Personalized genetic assessment of age associated Alzheimer’s disease risk (2016) (9)
A common haplotype lowers SPI1 (PU.1) expression in myeloid cells and delays age at onset for Alzheimer’s disease (2017) (9)
Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1. (1992) (9)
Re: Genetic effect of α1-antichymotrypsin on the risk of Alzheimer disease (1997) (9)
Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis (2009) (9)
Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (9)
Pathway analysis by randomization incorporating structure - PARIS: an update (2016) (9)
Sex differences in the genetic architecture of cognitive resilience to Alzheimer’s disease (2022) (9)
Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysis (2006) (9)
Erratum: Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease (Human Molecular Genetics (2003) vol. 12 (3259-3267)) (2004) (8)
Coding variants in ARMS2 and the risk of age-related macular degeneration. (2013) (8)
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. (2021) (8)
Common Variants Near CAV1 And CAV2 Are Associated With POAG In A US Caucasian Population (2011) (8)
Plasma Metabolomics of Intermediate and Neovascular Age-Related Macular Degeneration Patients (2021) (8)
Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1 (1997) (8)
Polygenic Risk Score for Alzheimer's Disease in Caribbean Hispanics (2021) (8)
Distribution of WDR 36 DNA Sequence Variants in Patients with Primary Open-Angle Glaucoma (2006) (8)
Linkage analysis in juvenile neuronal ceroid lipofuscinosis. (1992) (8)
A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p (2011) (8)
233 Complete genomic screen in late-onset familial Alzheimer disease (1996) (8)
Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21 (1994) (8)
Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus (2018) (8)
Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration (2019) (8)
Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes (1988) (8)
Set-based joint test of interaction between SNPs in the VEGF pathway and exogenous estrogen finds association with age-related macular degeneration. (2014) (8)
Genetic Analysis of Complex Diseases: Second Edition (2005) (7)
Structure of myosin heavy chain in avian muscular dystrophy. (1985) (7)
Reproducibility of qualitative assessment of drusen volume in eyes with age related macular degeneration (2020) (7)
Automated identification of clinical features from sparsely annotated 3-dimensional medical imaging (2021) (7)
Peripherin gene is linked to keratin 18 gene on human chromosome 12 (1995) (7)
Education Moderates the Relation Between APOE ɛ4 and Memory in Nondemented Non-Hispanic Black Older Adults. (2019) (7)
Myosin heavy chain in avian muscular dystrophy corresponds to the neonatal isozyme. (1985) (7)
A genetic map of chromosome 1: comparison of different data sets and linkage programs. (1990) (7)
Genetic Linkage Studies in Late-Onset Alzheimer’s Disease Families (1988) (7)
Isolation of genes from the Batten candidate region using exon amplification. Batten Disease Consortium. (1995) (7)
CpG‐related SNPs in the MS4A region have a dose‐dependent effect on risk of late–onset Alzheimer disease (2019) (6)
PowerTrim: An automated decision support algorithm for preprocessing family-based genetic data. (2003) (6)
Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis (2008) (6)
Genome-Wide Meta-Analysis of Late-Onset Alzheimer's Disease Using Rare Variant Imputation in 324,809 Subjects Identifies Novel Rare Variant Locus NCK2: The International Genomics of Alzheimer's Project (IGAP) (2021) (6)
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21 (2011) (6)
DRUG-DRUG INTERACTION PROFILES OF MEDICATION REGIMENS EXTRACTED FROM A DE-IDENTIFIED ELECTRONIC MEDICAL RECORDS SYSTEM (2016) (6)
Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample (2017) (6)
A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer’s Disease in African Ancestry (2022) (6)
Distribution of COL 8 A 2 and COL 8 A 1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness (2010) (6)
Association Analysis of Genetic Polymorphisms in the CDC2 Gene with Late-Onset Alzheimer Disease (2006) (6)
Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus. (1991) (6)
Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples (2010) (6)
Whole-Genome Amplification of Oral Rinse Self-Collected DNA in a Population-Based Case-Control Study of Breast Cancer (2007) (5)
Linkage analysis in familial Alzheimer disease: Description of the Duke and Boston data sets (1993) (5)
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease (2021) (5)
Analysis of brain region-specific co-expression networks reveals clustering of established and novel genes associated with Alzheimer disease (2020) (5)
No Association between SNP rs498055 on Chromosome 10 and Late‐Onset Alzheimer Disease in Multiple Datasets (2007) (5)
Genome-and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk Running title : Ritchie et al . ; QRS GWAS and PheWAS in electronic records (2013) (5)
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians (2013) (5)
Exome sequencing identifies rare damaging variants in the ATP8B4 and ABCA1 genes as novel risk factors for Alzheimer’s Disease (2020) (5)
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease (2022) (5)
Molecular Genetic Evidence for Etiologic Heterogeneity of Alzheimer’s Disease (1992) (5)
Sorcs1 Alters APP Processing and Variants may Increase Alzheimer's Disease Risk (2010) (5)
ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION (2017) (5)
Admixture Mapping of Alzheimer’s disease in Caribbean Hispanics identifies a new locus on 22q13.1 (2022) (5)
Fine-mapping of the chromosome 12 Alzheimer disease locus using family-based association tests of microsatellite markers (2000) (5)
Genetic and clinical evaluation of pedigrees affected by pseudoexfoliation from Nova Scotia and Iceland (1997) (5)
Search for the familial Alzheimer's disease gene. (1987) (5)
Apolipoprotein E epsilon2 does not increase risk of early-onset sporadic Alzheimer's disease. (1997) (5)
X-linked Dominant ALS (1998) (5)
A Second Locus for Pigment Dispersion Syndrome Maps to Chromosome 18q21 (2005) (5)
Lower Levels of Education Are Associated with Cognitive Impairment in the Old Order Amish. (2020) (5)
Examination of candidate genes in language disorder: a model of genetic association for treatment studies. (2004) (5)
Rapid dissection of the genetic risk of age-related macular degeneration: achieving the promise of the genomic era. (2007) (5)
Clinical Findings and Linkage Studies in Familial Tuberous Sclerosis (1991) (4)
Protein phosphatase 2A and complement component 4 are linked to the protective effect of APOE ɛ2 for Alzheimer's disease (2022) (4)
GENOME-WIDE RARE VARIANT IMPUTATION AND TISSUE-SPECIFIC TRANSCRIPTOMIC ANALYSIS IDENTIFY NOVEL RARE VARIANT CANDIDATE LOCI IN LATE-ONSET ALZHEIMER’S DISEASE: THE ALZHEIMER’S DISEASE GENETICS CONSORTIUM (2017) (4)
Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16 (1993) (4)
Molecular genetics of familial Alzheimer's disease. (1989) (4)
Beyond proof of principle: new genes for Alzheimer's disease through collaboration (2009) (4)
Risk of alzheimer disease is associated with parental age among apolipoprotein E ε4 heterozygotes (1997) (4)
Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance. (1994) (4)
The importance of rare DNA variation in neurologic disease (2013) (4)
Evaluation of small leucine–rich proteoglycans located on chromosome 12q21 in families with juvenile–onset myopia. (2004) (4)
A COMMON ALLELE IN SPI1 LOWERS RISK AND DELAYS AGE AT ONSET FOR ALZHEIMER'S DISEASE (2016) (4)
Optineurin Sequence Variants Do Not Predispose to Primary Open Angle Glaucoma (2003) (4)
Molecular Genetic Strategies in Familial Alzheimer’s Disease: Theoretical and Practical Considerations (1988) (4)
Adult-Onset Primary Open Angle Glaucoma Does Not Localize to Chromosome 2cen-q13 in North American Families (1998) (4)
Nonparametric Linkage Analysis (2005) (4)
The molecular genetics of eye diseases. (2017) (4)
Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish (2019) (4)
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder (2017) (4)
Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2). (1992) (4)
Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma (2010) (4)
Leveraging Identity-by-Descent for Accurate Genotype Inference in Family Sequencing Data (2015) (4)
Genomic screen of 739 sibpairs with late onset Alzheimer disease (2000) (3)
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. (1994) (3)
Genetics of multiple sclerosis. (1999) (3)
DNA Markers in Familial Alzheimer’s Disease (1986) (3)
Effects of Age and Ethnicity on the Link Between APOE ∊4 and Alzheimer Disease—Reply (1998) (3)
Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis (2019) (3)
Allele in Women with Breast Cancer Hemochromatosis HFE C 282 Y Increased Prevalence of the Updated (2004) (3)
Hamilton et al. Respond to “Consolidating Data Harmonization” (2011) (3)
Gene linkage in familial amyotrophic lateral sclerosis: a progress report. (1991) (3)
Evidence for Multiple Genes (2001) (3)
A genetic linkage map of chromosome 21: a look at meiotic phenomena. (1993) (3)
No association of α 1-antichymotrypsin flanking region polymorphism and Alzheimer disease risk in early- and late-onset Alzheimer disease patients (1998) (3)
Genome‐wide association and multi‐omics studies identify MGMT as a novel risk gene for Alzheimer disease among women (2021) (3)
No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. (1996) (3)
ABCA7 FRAMESHIFT DELETION ASSOCIATED WITH ALZHEIMER’S DISEASE IN AFRICAN AMERICANS (2016) (3)
Comparison of Spectralis and Cirrus optical coherence tomography for the detection of incomplete and complete retinal pigment epithelium and outer retinal atrophy. (2021) (3)
Apolipoprotein E-e4 and apolipoprotein E-e2 are susceptibility genes that affect the rate of disease expressivity of late-onset familial and sporadic Alzheimer disease (1994) (2)
Evaluation of NOS3 polymorphisms in patients with primary open angle glaucoma (2004) (2)
Neuroimaging, neuropsychological, and genetic assessments for early detection of Alzheimer disease (1996) (2)
Genome-wide association study of brain arteriolosclerosis (2022) (2)
Report on the 1996 International chromosome 9 workshop (1997) (2)
Progranulin mutations in clinical and neuropathological Alzheimer's disease (2022) (2)
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (2019) (2)
The juvenile glaucoma gene on 1q21-q31 is not associated with Primary Open Angle Glaucoma (POAG) (1996) (2)
Paracentral Visual Vield Loss in Glaucoma Patients Is Associated With the p53 Codon 72 Pro/Pro Genotype (2007) (2)
Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus (2021) (2)
Effect of OCT B-Scan Density on Sensitivity for Detection of Intraretinal Hyperreflective Foci in Eyes with Age-Related Macular Degeneration (2022) (2)
MITOCHONDRIAL VARIANTS AND HAPLOGROUPS ASSOCIATED WITH LATE-ONSET ALZHEIMER’S DISEASE IDENTIFIED BY WHOLE EXOME SEQUENCING (2019) (2)
Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1). (1992) (2)
Identifying Genetic Factors in Parkinson Disease—Reply (2002) (2)
Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL). (1995) (2)
Genetic analysis of pedigrees affected by juvenile onset myopia (1996) (2)
Systems genomics in age-related macular degeneration (2022) (2)
The Dissection of High-Penetrance Variants in Extended Late-Onset Alzheimer Disease Families by Whole-Exome Sequencing (S28.004) (2014) (2)
Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease (2021) (2)
Cigarette smoking and APOE genotype interaction in age related macular degeneration (2004) (2)
Genetic variants in the SHISA6 gene are associated with delayed cognitive impairment in two family datasets (2021) (2)
Protein phosphatase 2A, complement component 4, and APOE genotype linked to Alzheimer disease using a systems biology approach (2020) (2)
Immune and Inflammatory Pathways Implicated by Whole Blood Transcriptomic Analysis in a Diverse Ancestry Alzheimer's Disease Cohort. (2020) (2)
IDENTIFICATION OF NOVEL CANDIDATE GENES FOR EARLY-ONSET ALZHEIMER'S DISEASE THROUGH INTEGRATED WHOLE-EXOME SEQUENCING AND EXOME CHIP ARRAY ASSOCIATION ANALYSIS (2016) (2)
Increased APOEε4 expression is associated with reactive A1 astrocytes and the difference in Alzheimer Disease risk from diverse ancestral backgrounds (2020) (2)
Protein phosphatase 2A, complement component 4, and APOE genotype linked to Alzheimer’s disease using a systems biology approach (2020) (2)
Designing a Study for Identifying Genes in Complex Traits (2005) (2)
Coding Variants In The ARMS2 Gene And The Risk Of Age-related Macular Degeneration (2012) (2)
Genotype Correlation Analysis Reveals Pathway-Based Functional Disequilibrium and Potential Epistasis in the Human Interactome (2014) (2)
The Role of Genetics and Smoking in Response to Anti-VEGF Therapy for Wet AMD (2011) (2)
Whole-Exome Sequencing Of Hispanic Early-Onset Alzheimer Disease Families Identifies Rare Variants In Multiple Alzheimer-Related Genes (S28.003) (2014) (2)
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (2019) (2)
Distribution of WDR36 DNA Sequence Variants in Primary Open Angle Glaucoma Patients (2006) (2)
Localization ofOneGeneforTuberousSclerosis within 9q32-9q34, andFurther Evidence forHeterogeneity (1991) (2)
Dementia revealed: Novel chromosome 6 locus for late-onset Alzheimer's disease provides genetic evidence for folate-pathway abnormalities (2010) (2)
Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma (2014) (2)
The glycinamide ribonucleotide transformylase (GART) gene is not responsible for familial amyotrophic lateral sclerosis (1993) (2)
Risk Factors for Progression of Age-Related Macular Degeneration: Population-Based Amish Eye Study (2022) (1)
Pedigree Selection and Information Content (2018) (1)
Exome Sequencing In Multiplex AMD Families (2011) (1)
Follow-up of Genomic Screen Regions in Age-Related Macular Degeneration (2002) (1)
Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility (2017) (1)
An Analysis of Allelic Variation in the ABCA4 Gene in Multiplex ARM Patients and Controls (2002) (1)
Expression quantitative trait loci (eQTL) analysis in a diverse Alzheimer disease cohort reveals ancestry‐specific regulatory architectures (2021) (1)
Comparative trans‐ethnic meta‐analysis of whole exome sequencing variation for Alzheimer’s disease (AD) in 18,402 individuals of the Alzheimer’s Disease Sequencing Project (ADSP) (2020) (1)
D 2 Dopamine Receptor A 1 Allele in Alzheimer Disease and Aging (1)
BATTEN-DISEASE .1. ISOLATION OF A CANDIDATE GENE FOR CLN3 (1995) (1)
The Diverse Molecular Nature of Inherited Alzheimer’s Disease (1994) (1)
Association of MAPT haplotypes with Alzheimer’s disease risk and MAPT brain gene expression levels (2014) (1)
Arrhythmia Risk Genome-and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of (2013) (1)
Identification of Genetic Variants and Serum Metabolites Associated with Blood‐derived Mitochondrial DNA Copy Number (2022) (1)
Exome sequencing of late-onset extended Alzheimer families (2010) (1)
Genetic Architecture of RNA Editing Regulation in Alzheimer Disease across Diverse Ancestral Populations. (2022) (1)
Genes linked to systemic hypertension (HTN) and Maturity Onset Diabetes of the Young (MODY) are not associated with Primary Open Angle Glaucoma (POAG) (1996) (1)
Hadoop and PySpark for reproducibility and scalability of genomic sequencing studies (2019) (1)
Ordered Subset Analysis in Primary Open-Angle Glaucoma (POAG): Evidence for Linkage to Chromosomes 14 and 15 (2003) (1)
Artificial intelligence-based strategies to identify patient populations and advance analysis in age-related macular degeneration clinical trials. (2022) (1)
TESTS OF DISEASE RISK VERSUS AGE AT ONSET: A POWER COMPARISON (2019) (1)
Polygenic overlap between C-reactive protein , plasma lipids and Alzheimer ’ s disease 1 2 (2017) (1)
Genomic Screen and Follow-up Analysis on AMD Multiplex Families (2003) (1)
ASSESSMENT OF THE GENETIC VARIANCE OF LATE-ONSET ALZHEIMER’S DISEASE (2016) (1)
Myocilin Mutations in Families with Late-Onset Primary Open-Angle Glaucoma (2000) (1)
Low-frequency variant imputation identifies rare variant candidate loci in a gwas of late-onset Alzheimer’s disease in the igap consortium (2015) (1)
Somatic Loss of the Y Chromosome and Alzheimer’s Disease Risk (2022) (1)
A Primer in Statistical Methods in Genetics (2009) (1)
Genomic screening for dissection of a complex disease: The multiple sclerosis phenotype (1994) (1)
234 Lack of apolipoprotein E-4 [APOE-4] effect in familial late-onset Alzheimer disease [AD] in the amish population (1996) (1)
Abstract 3395: A Novel Locus on Chromosome 5 for Familial Atrial Fibrillation Associated with Prolonged Signal-Averaged P-wave (2006) (1)
IDENTIFYING A PROTECTIVE VARIANT THAT LOWERS THE RISK FOR DEVELOPING AD IN APOE-E4 CARRIERS (2018) (1)
Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree. (1992) (1)
GENOME-WIDE META-ANALYSIS OF LATE-ONSET ALZHEIMER’S DISEASE USING RARE VARIANT IMPUTATION IN 64,859 SUBJECTS IDENTIFIES RISK LOCI WITH ROLES IN INNATE IMMUNITY AND CARDIOVASCULAR TRAITS: THE INTERNATIONAL GENOMICS OF ALZHEIMER’S PROJECT (IGAP) (2019) (1)
Novel Mutation in the SPG 3 A Gene in an African American Family With an Early Onset of Hereditary Spastic Paraplegia (2004) (1)
WHOLE-GENOME SEQUENCING IN FAMILIAL LATE-ONSET ALZHEIMER’S DISEASE IDENTIFIES RARE VARIATION IN AD CANDIDATE GENES (2017) (1)
BIVARIATE GENOME-WIDE ASSOCIATION STUDY OF NEUROPATHOLOGIC FEATURES OF ALZHEIMER’S DISEASE (2017) (1)
Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between WNT7B and Central Corneal Thickness (2013) (1)
The National Institute on Aging Late‐Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery (2022) (1)
ABCA7 deletion associated with Alzheimer's disease in african americans (2015) (1)
Distribution of p53 codon 72 Polymorphism in Primary Open Angle and Low Tension Glaucoma (2003) (1)
iPSC‐derived neurons and microglia with an African‐specific ABCA7 frameshift deletion have impaired function (2020) (1)
Genetic association of variants with late-onset Alzheimer's disease risk and brain gene expression (2012) (1)
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits (2017) (1)
WHOLE EXOME SEQUENCING OF LATE ONSET MULTIPLEX FAMILIES IDENTIFIES RARE CODING VARIANTS IN KNOWN AND NOVEL ALZHEIMER’S DISEASE GENES (2016) (1)
Introducing COCOS: codon consequence scanner for annotating reading frame changes induced by stop-lost and frame shift variants (2017) (1)
Sequence analysis of CTNNA2 and LRRTM1 for late-onset Alzheimer's disease in the Amish (2012) (1)
Descriptive analysis of pattern of age related macular degeneration (AMD) lesions in multiplex families. (2004) (1)
Distribution of rare LOXL1 missense alleles, haplotypes and diplotypes suggests association with reduced risk of glaucoma-related exfoliation syndrome. (2021) (1)
Genetic linkage and affected pedigree member analysis in malignant melanoma. (1992) (1)
Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex. (1990) (1)
Analysis of nitric oxide synthase genes in age–related macular degeneration (2004) (1)
Genome‐wide meta‐analysis of late‐onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies risk loci with roles in memory, neurodevelopment, and cardiometabolic traits: The international genomics of Alzheimer’s project (IGAP) (2020) (1)
Copy number polymorphism at chromosome 19 locus associated with late-onset Alzheimer's disease (2010) (1)
Methods for detecting additional genes underlying Alzheimer disease (1994) (1)
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s disease (2018) (1)
Genotype at polymorphism rs5749482 and TIMP3 expression in AMD (2014) (1)
Correction: Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity (2013) (1)
P1-313 Examination of the effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer’s disease (2006) (1)
C3 R102G Polymorphism Is Associated With Increased Risk of Age-Related Macular Degeneration (2008) (1)
Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease (2021) (1)
Abstract 4108: Identification of Kalirin Gene as a Novel Coronary Artery Disease Gene through Peak-Wide Association Mapping on Chromosome 3q13-21 (2006) (1)
The identification of rare variants in late-onset Alzheimer’s disease using extended families (2013) (1)
The Search for Additional Alzheimer’s Disease Genes (1996) (1)
Association of Clusterin Variants and Exfoliation Syndrome: An Analysis in Two Caucasian Datasets and A Summary Meta-analysis (2015) (1)
PheKB.org: An Online Collaboration Tool for Phenotype Algorithm Research (2012) (1)
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma (2018) (1)
Examining AMD GWAS Signals in Light of Regulatory eQTL Variants (2014) (1)
APOE‐stratified genome‐wide association analysis identifies novel Alzheimer disease candidate risk loci for African Americans (2021) (1)
THE CONTRIBUTION OF SEX-SPECIFIC ASSOCIATIONS IN GENETIC STUDIES OF ALZHEIMER’S DISEASE PATHOLOGY (2018) (0)
Identification of variants that confer susceptibility to Alzheimer's disease in the Amish through exome sequencing (2013) (0)
Potential Chromosome 12 Locus for Late-Onset Familial Alzheimer Disease—Reply (1998) (0)
P3-223: Genome-wide association analysis of the age-at-onset for individuals with Alzheimer's disease (2008) (0)
CYP1B1 mutations in Brazilian and American patients with congenital glaucoma (2002) (0)
UBQLN2 Mutations in ALS and ALS/Dementia: A Genetic, Functional and Histopathological Analysis (S05.006) (2012) (0)
Novel Loci for Alzheimer Disease Identified by Genome Wide Association Study in Ashkenazi Jews (2022) (0)
A Haptoglobin (HP) Structural Variant Alters the Effect of APOE Alleles on Alzheimer’s Disease (2022) (0)
Analysis of chromosome 12 candidate genes in late-onset Alzheimer disease (2000) (0)
Error detected in published lod scores. (1986) (0)
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation (vol 25, pg 1859, 2018) (2020) (0)
Identifying the Gene Causing Hereditary Primary Open Angle Glaucoma in Beagles (2010) (0)
Known Age-Related Macular Degeneration Risk Variants Are Not Associated with Rapid Disease Progression or Good Treatment Response (2015) (0)
PROTECTIVE GENETIC VARIANTS IN THE MIDWESTERN AMISH (2019) (0)
P4-144 The high-affinity choline transporter (CHT) functional variant 189V in Alzheimer's disease: an association study (2004) (0)
Genome‐wide association study of cognitive status and decline in the Amish (2021) (0)
Comparison of phenotype in singleton and multiplex AMD (2004) (0)
Genome-wide Interaction Analysis Of Exogenous Estrogen In Age-related Macular Degeneration (AMD) Implicates CFD (2012) (0)
P4-080 Genetic studies of Alzheimer disease on chromosome 9P (2004) (0)
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression (2020) (0)
P4-103 APOE allele specific gene expression in Alzheimer's and control hippocampus (2004) (0)
Global assessment of non-coding RNA's regulation on altered transcription in the temporal pole of late-onset Alzheimer's disease patients (2012) (0)
A High Density Linkage Screen for POAG: Evidence for Different Loci by Race (2006) (0)
Characterization of chromosome 5q35 risk locus in African Ancestry population. (2022) (0)
No Deletion of CFHL1 and CFHL3 Genes in Age-Related Macular Degeneration (2007) (0)
Epidemiologic Architecture for Genes Linked to Environment (EAGLE): Association of ARMS2 A69S With Age-Related Macular Degeneration in the National Health and Nutrition Examination Surveys (2010) (0)
Genetics DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma (2014) (0)
Using linkage analysis to identify novel gene‐gene interactions in Alzheimer’s disease (2020) (0)
Primary Open-Angle Glaucoma (POAG) Candidate Gene Analysis (2003) (0)
A Novel Protective locus significantly reduces the ApoEε4 risk for Alzheimer’s Disease in individuals of African Ancestry. (2022) (0)
The role of the CD[subscript 5]8 locus in multiple sclerosis (2009) (0)
Analysis of brain region-specific co-expression networks reveals clustering of established and novel genes associated with Alzheimer disease (2020) (0)
Biomarkers of Oxidative Stress and Genetic Variants in Age-related Macular Degeneration (2011) (0)
Comprehensive Variant Discovery in the Late-Onset Alzheimer’s Disease Susceptibility Gene MTHFD1L Using Next Generation Sequencing Technology (2011) (0)
Interaction analysis of exogenous estrogen in age-related macular degeneration (AMD) finds novel associations within the VEGF, Complement, and TGFB pathways (2013) (0)
Interaction Between SNPs in the NOS2A Gene and Smoking in Age-Related Macular Degeneration (2009) (0)
Investigating Age-related Macular Degeneration in the Amish (2013) (0)
Identifying genetic factors in Parkinson disease [6] (multiple letters) (2002) (0)
Genome-wide association study validates associations in APOE, VDR, SORL1, WWC1, and ELAVL4 and identifies novel candidate genes for late-onset Alzheimer's disease (2009) (0)
Association of mitochondrial haplogroups and cognitive impairment in the Amish (2022) (0)
GENOME-WIDE LINKAGE ANALYSES IDENTIFY NOVEL LOCI FOR FAMILIAL LATE-ONSET ALZHEIMER'S DISEASE (2014) (0)
Linkage and association analyses identify a vCDR locus on chromosome 14q32 in consanguineous pedigrees from South India (2014) (0)
Suggestive linkage and association of preserved cognition to chromosome 18 in genetically at‐risk Amish (2021) (0)
Genetic Variation in RRAGC Affects Progression Rate from Intermediate to Advanced Age-Related Macular Degeneration (2017) (0)
Genome-wide association analyses of onset age in late-onset Alzheimer's disease (LOAD) demonstrate no strong effect outside of the apolipoprotein region (2012) (0)
Null Results in Brief Association of CYP 1 B 1 Haplotypes and Breast Cancer Risk in Caucasian Women (2009) (0)
COCH Variants are not Associated with Primary-open Angle Glaucoma or Intraocular Pressure in Caucasians (2013) (0)
P4-088 Association analysis of interleukin 1 (IL-1) polymorphisms with age-at-onset and risk of Alzheimer disease (2004) (0)
Age at menopause genetic risk score in relation to primary open-angle glaucoma in the Augmented GLAUGEN study (2015) (0)
Mutation in ADAMTS10 in a Canine Model of Primary Open Angle Glaucoma (2011) (0)
Linkage of a novel FAD locus to chromosome-14q (1993) (0)
Association of Genes and Environment to Progression of Age- Related Macular Degeneration (2010) (0)
Genomic Screen for adult–onset primary open angle glaucoma: Follow–up studies suggest loci on 14q11 and 15q. (2004) (0)
Genome-Wide Study for Age-related Macular Degeneration in the Amish (2012) (0)
Sex differences in APOE effects on cognition are domain‐specific (2022) (0)
The Role of Neurofilament Genes in Familial Alzheimer's Disease (1987) (0)
REPURPOSING OF MONTELUKAST FOR THE TREATMENT OF ALZHEIMER’S CLINICAL TRIAL IN ALZHEIMER’S PATIENTS (2018) (0)
Segregation, linkage, GWAS, and sequencing (2020) (0)
Genetic linkage analysis of Rieger's syndrome: Evidence for genetic heterogeneity (1996) (0)
Title: The relationship between open angle glaucoma, optic disc morphology and Alzheimer’s Disease: a Mendelian randomization study (2020) (0)
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci | NOVA. The University of Newcastle's Digital Repository (2011) (0)
Fine Mapping of GLC1K Primary Open Angle Glaucoma Region (2008) (0)
Analysis of TJP1 (tight junction protein 1) as a Candidate Gene for POAG (2002) (0)
A population-specific reference panel empowers genetic studies of Anabaptist populations (2017) (0)
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
Localization of Arms2 mRNA and Protein in Human Retina (2010) (0)
Exome sequencing in the mid-western Amish to identify rare variation influencing AMD (2013) (0)
The Role of Genetics in Response to Anti-VEGF Therapy for Wet AMD (2013) (0)
Does higher educational attainment influence functional capabilities among African Americans with Alzheimer’s disease? (2021) (0)
Genotyping (2010) (0)
Copy Number Variants associated with Glaucoma in the NEIGHBOR Study (2014) (0)
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration (2020) (0)
PATIENT SATISFACTION WITH GERIATRIC PSYCHIATRY SERVICES VIA VIDEO TELECONFERENCE (2019) (0)
Dietary Source of Vitamin D Is Associated with Parkinson Disease and Total Vitamin D Modifies the Genetic Association between Vitamin D Receptor (VDR) Gene and Parkinson Disease (P4.055) (2014) (0)
Biological knowledge-driven approach to gene-gene interaction analysis in the Alzheimer's Disease Genetics Consortium (2012) (0)
Y402H Variant in Complement Factor H (CFH): Association with Age-Related Maculopathy (ARM) and Correlation with Macular Pigment Optical Density (MPOD), Serum C-Reactive Protein (CRP), and Lutein & Zeaxanthin (L&Z) in a Mid-South US Elderly Sample (2009) (0)
Rare Variant Pathway Analysis in the Age-Related Eye Disease Study 2 (2017) (0)
P1-356 SAGE analysis of APOE allele-specific gene expression in hippocampus in Alzheimer’s disease (2006) (0)
Large repeat expansions in the C9ORF72 gene contribute to a spectrum of neurodegenerative disorders including Alzheimer's disease in Caucasians, but not African-Americans (2012) (0)
Distinct features of rapidly progressive Alzheimer’s disease (2022) (0)
Retina The Carnitine Shuttle Pathway is Altered in Patients With Neovascular Age-Related Macular Degeneration (0)
Genome-Wide Pathway Approach to Dissecting Primary Open-Angle Glaucoma (2016) (0)
Genetics Set-Based Joint Test of Interaction Between SNPs in the VEGF Pathway and Exogenous Estrogen Finds Association With Age-Related Macular Degeneration (2014) (0)
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder (2017) (0)
Whole-exome sequencing in age-related macular degeneration (2013) (0)
Ocular phenome-wide association study (PheWAS) of glaucoma-associated genes identifies significant associations with ocular quantitative traits (2018) (0)
Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations (2018) (0)
Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (2023) (0)
Contribution Variation Within DNA Repair Pathway Genes and Risk of Multiple Sclerosis (2010) (0)
Identifying Copy Number Variation influencing risk for Alzheimer's disease in the Amish (2010) (0)
Abstract 4408: Using a Large Electronic Medical Record to Validate 4q25 Variants Conferring Risk for Atrial Fibrillation (2008) (0)
AMD-associated variants at chromosome 10q26 locus and ARMS2/HTRA1gene expression (2013) (0)
CONTINUOUS COMMUNITY ENGAGEMENT IMPROVES RECRUITMENT OF OLDER AFRICAN AMERICANS FOR GENETIC STUDIES IN ALZHEIMER’S DISEASE (2018) (0)
Contribution of AMD risk variants to the genetic architecture of choroidal thickness in the Amish (2017) (0)
Metabolomic profiles distinguish Age-related Macular Degeneration patients (2013) (0)
African Haplotypic Background Mitigates the Effect of APOE e4 Risk Allele in Alzheimer Disease (P2.195) (2018) (0)
Genetic Linkage Reference Maps: Access to Internet‐Based Resources (1998) (0)
Assessing whole genome sequencing variation for Alzheimer’s disease in 4707 individuals from the Alzheimer’s Disease Sequencing Project (ADSP) (2020) (0)
Association of a locus on chromosome 17 with earlier age at onset of cognitive impairment in a familial Amish dataset (2021) (0)
Drusen morphometrics on optical coherence tomography in eyes with age-related macular degeneration and normal aging. (2023) (0)
Genome-wide Association Study of Choroidal Thickness in the Amish (2018) (0)
P3-228: Genetic association of vitamin D receptor gene on chromosome 12q with late-onset Alzheimer's disease (2008) (0)
Preface (2011) (0)
Erratum (1937) (0)
Third International Symposium on the Neuronal Ceroid-Lipofuscinoses (Batten's Disease), Indianapolis, Indiana, USA (1991) (0)
Hunting genetic diseases: Exploring a multistage approach to identifying disease loci (1999) (0)
Genomics of Reticular Pseudodrusen in Age-related Macular Degeneration (2012) (0)
Sex‐specific genetic predictors of memory, executive function, and language performance (2022) (0)
Examination of candidate genes for autism on chromosome 7 (2001) (0)
Linkage and association of successful aging to the 6q25 region in large Amish kindreds (2012) (0)
Genome-Wide Analysis of Mitochondrial DNA (mtDNA)-Nuclear DNA Interaction in Age-Related Macular Degeneration (AMD) (2014) (0)
Evaluation of screening strategies to detect an oligogenic disease (1995) (0)
THE GENETICS AND EPIDEMIOLOGY OF MULTIPLE SCLEROSIS (2003) (0)
Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration (2020) (0)
Genotype at four loci associated with risk of advanced AMD does not predict progression rate from intermediate to advanced disease (2015) (0)
APP associated with late-onset Alzheimer's disease in an autopsy-confirmed dataset (2012) (0)
Iole Indovina Vestibular Cortex Representation of Visual Gravitational Motion in the Human (2011) (0)
Spatial Distribution of Rare Missense Variants Within Protein Structures is Associated with AD Risk (2022) (0)
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (0)
Cigarette Smoking Strongly Modifies the Effect of LOC387715 on yhe Risk of Age–Related Macular Degeneration (2006) (0)
Estrogen Pathway Polymorphisms in Relation to Primary Open Angle Glaucoma: A Gender-Specific Analysis from Patients in the United States (2013) (0)
Comprehensive variant discovery in the Late-Onset Alzheimer Disease susceptibility gene Clusterin using next generation sequencing technology (2010) (0)
Erratum: Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record (American Journal of Human Genetics (2010) 86 (560-572)) (2010) (0)
Identifying endophenotypes associated with age-related macular degeneration in the Amish using OCT (2015) (0)
Norrie DiseaseGeneIsDistinct fromtheMonoamine Oxidase Genes (1989) (0)
TRANSCRIPTOMIC ANALYSIS OF WHOLE BLOOD IN AFRICAN AMERICAN AND NON-HISPANIC WHITE ALZHEIMER DISEASE CASES AND CONTROLS (2018) (0)
Genome-Wide Association Studies: Getting to Pathogenesis, the Role of Inﬂammation / Complement in AMD (2014) (0)
Impact of Genes and Environment on AMD Progression (2011) (0)
The Amish Eye Study: Baseline Quantitative Ocular Characteristics on a Unique Cohort (2017) (0)
Rare CFH Coding Variant in Amish AMD (2015) (0)
Resequencing of Confirmed Late-Onset Alzheimer Disease (LOAD) Loci Identifies Multiple Genomic Regions with Potentially Functional Variants (PD5.004) (2013) (0)
Genetic Mapping (2007) (0)
Evidence for linkage but not association to the GABRB3 region of chromosome 15 in a subset of primary open angle glaucoma (POAG) families. (2004) (0)
Functional Analysis Of The Chromosome 10q26 Locus In Age-related Macular Degeneration (2011) (0)
Genome-wide association study for dementia in the midwestern US Amish (2009) (0)
Shared genetic effects between diabetes-related traits and glaucoma-related traits (2018) (0)
Genetic linkage analysis of the TIMP3 locus in age-related macular degeneration (1996) (0)
Psychometric approaches to defining cognitive phenotypes in the Old Order Amish (2023) (0)
Common Variants in 9p21 and 8q23 are associated with Normal Tension Glaucoma: Results From The NEIGHBOR and GLAUGEN Genome-wide Association Studies (2012) (0)
CDKN2BAS Genotype - Glaucoma Phenotype Correlations In The GLAUGEN Study And The NEIGHBOR Consortium (2012) (0)
An Insertion/Deletion Polymorphism in the Glutathione Biosynthesis Pathway Is Associated with Earlier Onset of Alzheimer's Disease and Increased Susceptibility to Oxidant Injury In Vitro (2010) (0)
WHOLE GENOME SEQUENCING IN FAMILIAL LATE-ONSET ALZHEIMER’S DISEASE IDENTIFIES VARIATIONS IN TTC3 AND FSIP2 (2016) (0)
Characterization of Tau Association with Parkinson's Disease (2003) (0)
Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations (2018) (0)
P3-200: Genomic convergence of late-onset Alzheimer's disease candidate genes (2008) (0)
52 No association or linkage between the BamH1 polymorphism of the presenilin-I gene and late-onset Alzheimer disease (1996) (0)
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns (2022) (0)
Genetic Association and Linkage at Putative Risk Loci for Primary Open-angle Glaucoma (2016) (0)
Interaction Between SNPs in the ESR1 and ESR2 Genes and Estrogen Exposure in Age-Related Macular Degeneration (2010) (0)
Structural characterization of rare missense variants within known neurodegenerative disease proteins (2020) (0)
The role of age-related macular degeneration associated variants in drusen progression (2015) (0)
Lack of Association Between Polymorphisms of Elastin and Pseudoexfoliation Glaucoma (2009) (0)
P1-355 Joint analysis of candidate genes in AD through data reduction (2006) (0)
WHOLE-EXOME SEQUENCING OF HISPANIC EARLY-ONSET ALZHEIMER DISEASE FAMILIES IDENTIFIES RARE VARIANTS IN MULTIPLE ALZHEIMER'S-RELATED GENES (2014) (0)
EFFECTS OF AGE AND ETHNICITY ON THE LINK BETWEEN APOE EPSILON 4 AND ALZHEIMER DISEASE. AUTHORS' REPLY (1998) (0)
Genome-wide linkage analyses of non-Hispanic White families identifies novel loci for familial late-onset Alzheimer ' s disease (2016) (0)
Analysis of Alzheimer Disease Plasma Biomarker pTau‐181 in Individuals of Diverse Admixed Ancestral Backgrounds (2022) (0)
Ethnic Differences In Htra1/arms2 Association In Age-related Macular Degeneration (2011) (0)
Protective Effect of Factor B and Complement Component 2 in Age-Related Macular Degeneration (2007) (0)
Exome sequencing of extended late-onset Alzheimer's disease families identifies a variant in the TTC3 gene (2012) (0)
Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish (2022) (0)
African‐ancestry based polygenic risk scores improve Alzheimer disease risk prediction in individuals of African Ancestry (2022) (0)
Investigation of novel type 1 diabetes loci in multiple sclerosis (2009) (0)
A Haptoglobin (HP) Exon Deletion Polymorphism Alters the Effect of APOE Alleles on Alzheimer’s Disease in European‐Descent People with APOEε4 (2022) (0)
Sex differences in the genetic architecture underlying resilience in AD (2021) (0)
EXCEPTIONALLY LOW RISK OF ALZHEIMER’S DEMENTIA IN APOE2 HOMOZYGOTES (2019) (0)
The Interaction Between Attributes of Female Reproductive Aging and Nitric Oxide Synthase 3 Gene Variants in Primary Open-Angle Glaucoma: A Prospective Study (2008) (0)
Plasma pTau181 is associated with impaired cognition in the Old Order Amish and adds additional information beyond the known genetic risk factors for AD (2022) (0)
Genome-Wide Association Analysis Identifies Novel Loci Associated with the Onset Age Among Cases with Late-Onset Alzheimer’s Disease (2011) (0)
Microsatellite repeat polymorphism at the D16S366 locus. (1994) (0)
MITIGATING COMPLEXITIES IN RECRUITING AND RETAINING AFRICAN AMERICAN (AA) MULTIPLEX FAMILIES FOR ALZHEIMER DISEASE RESEARCH (2019) (0)
Response to Letter Regarding Article, “Cardiac Sodium Channel (SCN5A) Variants Associated with Atrial Fibrillation” (2008) (0)
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (2018) (0)
Patterns of recombination on human chromosome 22 (1994) (0)
Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12 (2002) (0)
Multi‐Ancestry Genome‐wide Association Analysis of Late‐Onset Alzheimer’s Disease (LOAD) in 60,941 Individuals Identifies a Novel Cross‐Ancestry Association in LRRC4C (2022) (0)
The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family (1990) (0)
MOLECULAR GENETIC APPROACHES TO AUTOSOMAL DOMINANT FAMILIAL ALZHEIMER'S DISEASE (1988) (0)
MULTI-ETHNIC ALZHEIMER’S DISEASE RELATED CHANGES OF RNA EDITING AFFECT IMMUNE REGULATION, ENDOCYTOSIS, AND AMYLOID PRECURSOR PROTEIN CATABOLISM (2018) (0)
Mapping Alzheimer disease–associated regions in the African American population (2020) (0)
Corrigendum: An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns (2022) (0)
Molecular Genetics of Macular Degeneration (2016) (0)
Genotype Phenotype Correlations in Patients With OPA1 DNA Sequence Variants (2006) (0)
Type2AppearstoBea Genetically HomogeneousDisease (1992) (0)
Genetic risk score for Alzheimer’s disease in the Amish highlights differences in the genetic architecture compared to other European ancestry populations (2021) (0)
Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans. (2022) (0)
Testosterone pathway polymorphisms in relation to primary open angle glaucoma: an analysis stratified by sex (2016) (0)
Pathway Analysis of Age-Related Macular Degeneration Exome Chip Data (2014) (0)
P4-138 Genomic convergence on chromosome 12 in Alzheimer's disease (2004) (0)
S2-01-01 Dementia in mid-Western U.S. amish families (2004) (0)
GENETIC VARIANTS IN ALZHEIMER’S DISEASE-ASSOCIATED REGIONS HAVE DIFFERENT EFFECTS ON RNA EDITING RATES IN AFRICAN-AMERICAN AND NON-HISPANIC WHITE POPULATIONS (2019) (0)
ELAVL4 locus confirmed in depression of Alzheimer's disease (2009) (0)
Confirmation of Protective Haplotypes Spanning the CFH Gene in Age–Related Macular Degeneration (2006) (0)
Design of the Depression Network (DeNt) study to identify susceptibility genes for unipolar depression (2002) (0)
Exome chip analysis identifies rare variants associated with primary open angle glaucoma (2013) (0)
Assessing a Network‐Specific Polygenic Risk Score for Alzheimer’s Disease in the Midwestern Amish and Across Diverse Ancestries (2022) (0)
Genome‐wide association for protective variants in Alzheimer’s disease in the Midwestern Amish (2021) (0)
NEUROPSYCHIATRIC FEATURES IN AFRICAN AMERICAN (AA) AND CAUCASIAN (CA) INDIVIDUALS WITH ALZHEIMER DISEASE (AD) (2019) (0)
Examination of association of the Common CFHR1/CFHR3 Deletion Polymorphism with AMD in the Amish (2014) (0)
Depressive Symptoms Associated with an Earlier Age at Onset Differ as a Function of Race‐Ethnicity: An Exploratory Analysis (2022) (0)
Meta-Analysis of Glaucoma Genome-Wide Imputed Dataset (2014) (0)
Panel Discussion II: Linkage Studies in Tuberous Sclerosis (1991) (0)
Genome-Wide Homozygosity Analysis of the Longevous Phenotype in the Amish Population (2017) (0)
Longitudinal assessment of cognitive decline in the Amish (2020) (0)
NOVEL GENETIC VARIANTS ASSOCIATED WITH FAMILIAL LATE-ONSET ALZHEIMER DISEASE IN THE ALZHEIMER’S DISEASE SEQUENCING PROJECT (2017) (0)
Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models (2015) (0)
Acta Neuropathologica ABCC 9 gene polymorphism is associated with hippocampal sclerosis of aging pathology (2017) (0)
The association between CAV1/2 region loci and their relation with primary open angle glaucoma (2013) (0)
Mosaic Loss of Chromosome Y in Peripheral Blood Cells and Cognitive Status in the Amish (2022) (0)
LINKAGE ANALYSES OF EXTENDED CARIBBEAN HISPANIC FAMILIES INDICATES NOVEL LOCI ASSOCIATED WITH FAMILIAL LATE-ONSET ALZHEIMER'S DISEASE (2014) (0)
Analyzing pathway specificity of variants associated with Alzheimer’s disease from the scientific literature corpus (2015) (0)
CDKN2BAS DNA Sequence Variants Are Associated with Exfoliation Glaucoma (2012) (0)
Education and its effect on risk and age at onset in Alzheimer disease (AD) in African Americans (2020) (0)
Inverse Association of Hormone Replacement Therapy and Oral Contraceptive Use With Age Related Macular Degeneration and Synergy With ARMS2 Promoter Polymorphisms (2009) (0)
Identification of An Exonic Splicing Enhancer Variation in Exon 5 of the Alzheimer Disease Associated PICALM Gene (2011) (0)
Consensus Measures for Genome-wide Association Studies of Cardiovascular Outcomes (2009) (0)
Genetic Studies of the Alzheimer’s Disease-Associated Amyloid β-Protein Precursor Gene and Familial Alzheimer’s Disease (1989) (0)
Contributors and Participants (1982) (0)
LINKAGE ANALYSIS OF NEURONAL CEROID LIPOFUSCINOSIS - REFINED MAPPING OF CLN3 AND EVIDENCE OF LOCUS HETEROGENEITY OF CLN3 AND CLN2 (1992) (0)
Reviewer Acknowledgment (2005) (0)
Covariate-Specific Linkage Peaks From a High Density SNP Genome Screen for Age- Related Macular Degeneration (2007) (0)
Genetic Risk Score Predicts of Severity of Age-related Macular Degeneration (2013) (0)
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (2019) (0)
Whole-Exome Sequencing in Multiplex Families Identifies Novel Rare Variants in Multiple Sclerosis (P05.137) (2013) (0)
Metabolomics reveals changes in fatty acid metabolism in age-related macular degeneration patients (2019) (0)
Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis (2011) (0)
BATTEN-DISEASE .2. GENOMIC ALTERATIONS IN CLN3 (1995) (0)
Preferential preservation of constructional praxis delayed recall compared to word list delayed recall in the Amish (2021) (0)
Transcriptomic characterization of a Puerto Rican Alzheimer disease cohort implicates convergent immune‐related pathways (2020) (0)
Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration (2020) (0)
A genome screen of 76 families ascertained through two autism probands (1998) (0)
Contribution of the CBS Gene to Pseudoexfoliation Glaucoma and Interaction With LOXL1 (2008) (0)
P1-345 Evidence for association between late-onset Alzheimer’s disease and MTHFR on chromosome 1 (2006) (0)
Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease. (2023) (0)
New evidence for enrichment of metabolic, signaling, and inflammatory pathways in age-related macular degeneration (2017) (0)
Follow–Up SNP Association Analysis of Linkage Peaks on Chromosomes 16p for Age–Related Macular Degeneration (AMD) (2005) (0)
ADGC+: An expanded Alzheimer's Disease Genetics Consortium (ADGC) genome-wide association study (2013) (0)
The GGLEAM Study: Understanding Glaucoma in the Ohio Amish (2021) (0)
Discovery and Replication of Gene-Gene Interactions in Multiple Independent Datasets from the Alzheimer Disease Genetics Consortium (2011) (0)
Genome analysis Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease (2018) (0)
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma (2018) (0)
Hypothesis Independent Pathway Analysis Identifies Biologic Pathways Associated With Poag In Data From The Neighbor And Glaugen Genomewide Association Studies (2012) (0)
Increased APOE‐e4 expression is associated with reactive A1 astrocytes and may confer the difference in Alzheimer disease risk from different ancestral backgrounds (2020) (0)
Attitudes and Beliefs About Brain Donation Among Black Americans (2022) (0)
Genome-wide association study identifies susceptibility loci associated with the rate of cognitive decline (2013) (0)
Multiple Viruses Detected in Human DNA are Associated with Alzheimer Disease Risk (2022) (0)
P1-330 Large scale candidate gene association studies in Alzheimer’s disease (2006) (0)
A High Density SNP Genome Screen for Age Related Macular Degeneration Reveals Novel Loci (2006) (0)
Metabolic pathways altered in neovascular age-related macular degeneration (2014) (0)
Identification of Rare Variants in Parkinson Disease Using Next-Generation Sequencing (S22.007) (2012) (0)
The genetic architecture of Alzheimer disease risk in the Ohio and Indiana Amish (2021) (0)
Genome‐wide interaction study of smoking in Alzheimer’s disease (2020) (0)
Identification and Analysis of POAG Candidate Genes Located on Chromosome 14 (2002) (0)
Examining Age-Related Macular Degeneration in the Amish (2008) (0)
RARE VARIANTS IN FAMILIAL LATE-ONSET ALZHEIMER’S DISEASE IDENTIFIED FROM LARGE SCALE WHOLE GENOME SEQUENCING (2019) (0)
Clustering of autoimmune disease in families at high risk for multiple sclerosis? – Authors' reply (2007) (0)
Evaluation of MTHFR Polymorphisms in Patients With Pseudoexfoliation Syndrome (2005) (0)
Ordered subsets linkage analysis and expression profiling of chromosome 16p in age–related macular degeneration (2004) (0)
Deep resequencing of 9 confirmed late-onset Alzheimer's disease (LOAD) loci identifies multiple genomic regions with potentially functional variants (2012) (0)
Choroidal Vascularity Index in Geographic Atrophy secondary to dry Age Related Macular Degeneration (2018) (0)
Genetic Mapping (2012) (0)
O2-06-02: A genetic susceptibility locus for depression of Alzheimer's disease and Parkinson's disease (2008) (0)
Genetic, metagenomic, host response, and environmental factors influences on corneal infiltrative events in soft contact lens wearers: the MERGE pilot study (2018) (0)
CEREBROSPINAL FLUID ENDOPHENOTYPES PROVIDE INSIGHT INTO BIOLOGY UNDERLYING ALZHEIMER'S DISEASE (2017) (0)
P1-287 Genetic studies of dementia in the mid-western US Amish (2006) (0)
Parkinsonian symptoms and lack of prominent frontal atrophy in a family with early-onset dementia and the MAPT R406W mutation (2012) (0)
TO JMG Interaction between the a-T catenin gene ( VR 22 ) and APOE in Alzheimer ’ s disease (2005) (0)
P3-225: Whole-genome SNP linkage screen for dementia in the midwestern U.S. Amish (2008) (0)
Genome-wide association study for late-onset Alzheimer's disease in the Mid-Western U.S. Amish (2010) (0)
THE GENETIC ARCHITECTURE OF ALZHEIMER DISEASE IN THE MID-WESTERN U.S. AMISH (2014) (0)
Caveolin-Soluble Guanylate Cyclase Single Nucleotide Polymorphism Score in Relation to Primary Open Angle Glaucoma in the NEIGHBORHOOD Consortium (2014) (0)
Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration (2022) (0)
Transethnic genome-wide meta-analysis for Alzheimer disease (2015) (0)
Genome-wide Linkage Analysis Using Large Consanguineous Pedigrees from South India Identifies New Loci for Ocular Quantitative Traits (2014) (0)
Association Analysis on Alzheimer’s Disease Sequencing Project (ADSP) 16,905 Whole‐Genome Sequence Data (2022) (0)
Admixture mapping identifies novel regions influencing Alzheimer disease in African Americans (2021) (0)
Postdoctoral Opportunities (2000) (0)
Association of Polymorphisms near ATOH7 with Optic Disc Area in Indian Consanguineous Pedigrees (2011) (0)
Common Variants in KLHL2 and C4orf50 Are Associated with Poorer Anti-VEGF Treatment Response in Age-Related Macular Degeneration (2018) (0)
Sex differences in genetic predictors of resilience to Alzheimer’s disease (2020) (0)
Association of ANGPT1 with Primary Open Angle Glaucoma (2017) (0)
Joint linkage and association mapping of preserved cognition in the old‐order Amish (2020) (0)
THE RELEVANCE OF APOE4 TO ALZHEIMER’S DISEASE IN THE PRESENCE OF LOCAL ANCESTRY DIFFERENCES (2017) (0)
Contents Vol. 79, 2015 (2015) (0)
Genetic Examination of Functional Candidate Genes In Age Related Macular Degeneration (2004) (0)
Genetic Data Putting Pleiotropy and Selection Into Context Defines a New Paradigm for Interpreting (2013) (0)
Cytoskeleton Associated ARMS2 in Age-Related Macular Degeneration (2008) (0)
Whole-exome sequencing in early-onset Alzheimer disease cases identifies novel candidate genes (2015) (0)
RESOURCE OF MULTIPLEX AFRICAN AMERICAN FAMILIES FOR WHOLE-GENOME SEQUENCING (2017) (0)
The ARMS2 69S Allele Associates With Bilateral Advanced Age-Related Macular Degeneration (2010) (0)
Variant-domain mapping in confirmed late-onset Alzheimer disease (LOAD) loci identifies multiple genomic regions with potentially functional variants (2013) (0)
LOW-FREQUENCY VARIANT IMPUTATION IDENTIFIES NOVEL DISEASE-ASSOCIATED LOCI IN A GENOME-WIDE ASSOCIATION STUDY OF LATE-ONSET ALZHEIMER'S DISEASE (2014) (0)
The Association Between Nitric Oxide Synthase 3 Gene Variants and Incident Primary Open-Angle Glaucoma: A US Population-Based Study (2009) (0)
Longitudinal GWAS Identifies Novel Genetic Variants and Complex Traits Associated with Resilience to Alzheimer’s Disease (2022) (0)
Phenome-wide association study (PheWAS) using glaucoma-related ocular quantitative traits supports WNT7B association with central corneal thickness (2016) (0)
Association of A COCH Promoter Region Polymorphism With IOP In POAG Patients (2011) (0)
A common haplotype lowers SPI1 expression in myeloid cells and delays age at onset for Alzheimer’s disease of Alzheimer's Alzheimer's Disease Neuroimaging Initiative (2022) (0)
Isolation of candidate genes from the Batten Disease (JNCL) region using exon amplification (1994) (0)
Late-onset Alzheimer’s disease neuropathology genomic screen identifies novel loci for neuritic plaque and other Alzheimer’s neuropathology features (2013) (0)
BAC-Based Small-Molecule Screen to Investigate Regulation of the Macular Degeneration Candidate Gene HTRA1 (2012) (0)
Linkage Disequilibrium between the Juvenile Neuronal Ceroid Lipofuscinosis Gene and Marker Loci on Chromosome 16p 1 2.1 (2007) (0)
Analysis of the Indel at 3’UTR of ARMS2 Gene and Its Effects on mRNA Stability (2009) (0)
Sex‐specific genetic predictors of memory performance (2021) (0)
Abstract 13007: Common and Rare Variants in SCN10A Associated with Atrial Fibrillation (2011) (0)
EXOME-WIDE ANALYSIS IDENTIFIES NOVEL SEX-SPECIFIC CANDIDATE GENES FOR ALZHEIMER DISEASE (2019) (0)
Genetic Mapping (2008) (0)
Fine Mapping of the Chromosome 14 POAG Region and Exclusion of COCH as a Candidate Gene (2007) (0)
Multiple viruses detected in human DNA are associated with Alzheimer disease risk (2021) (0)
RARE CODING MUTATIONS ASSOCIATED WITH ALZHEIMER DISEASE AND OTHER DEMENTIAS (2018) (0)
Investigation of a rare risk variant in complement factor H for age-related macular degeneration in the Amish (2018) (0)
SEX-SPECIFIC ANALYSIS OF THE ADSP CASE-CONTROL WHOLE-EXOME SEQUENCING DATASET (2017) (0)
Mitochondrial Haplogroup X is associated with successful aging in the Amish (2011) (0)
Identification of a LOXL1 Promoter Region SNP That Independently Modifies Risk of Exfoliation Syndrome (2010) (0)
Genomic Screen for Genes Responsible for Early Onset Open Angle Glaucoma (2002) (0)
Sex-Specific Primary Open-Angle Glaucoma Loci identified in a Meta-analyzed Genome-Wide Imputed Dataset (2015) (0)
OR.102. The CD58 Pathway is Implicated in MS Susceptibility (2008) (0)
MULTIVARIATE PHENOTYPES ASSOCIATION STUDY OF NEUROPATHOLOGICAL FEATURES OF ALZHEIMER'S DISEASE AND RELATED DEMENTIAS (2016) (0)
Targeted Resequencing of CDKN2BAS Locus Identifies Variants Associated with Primary Open Angle Glaucoma (2012) (0)
Detecting genetic loci for preservation of cognition in the Midwestern United States Amish (2022) (0)
The relationship between open angle glaucoma, optic disc morphology and Alzheimer's Disease: a Mendelian randomization study (2020) (0)
GRB-associated binding protein 2 (GAB2) interacts with APOE to alter risk of late-onset Alzheimer's disease (2009) (0)
FURTHER STRATIFICATION OF APOE E4-NEGATIVE SUBJECTS IDENTIFIES NOVEL GENES FOR ALZHEIMER'S DISEASE (2016) (0)
HIGHLY PENETRANT LATE-ONSET ALZHEIMER DISEASE VARIANTS IN NOTCH3 IN ASHKENAZI JEWS (2019) (0)
Evidence fromFamily Studies ThattheGeneCausing Huntington Disease IsTelomeric toD4S95andD4S90 (1989) (0)
Progress in Predicting Risk for Age-Related Macular Degeneration (2009) (0)
Identification of C9ORF72 repeat-expansions in Alzheimer's sample collections (2012) (0)
Distribution of NOS3 and P53 Genotypes in Glaucoma Patients After Stratification by Initial Visual Field Defect (2005) (0)
O2-07-04 COPY NUMBER POLYMORPHISM AT CHROMOSOME 19 LOCUS ASSOCIATED WITH LATE-ONSET ALZHEIMER’S DISEASE (2010) (0)
HIGH-RESOLUTION IMPUTATION IN GENOME-WIDE ASSOCIATION STUDIES OF LATE-ONSET ALZHEIMER'S DISEASE IDENTIFIES NOVEL RARE VARIANT ASSOCIATIONS (2016) (0)
CTNNA3, CAPRIN2 and SPG20 are significantly associated with Alzheimer's disease in preliminary analyses of a genome-wide association study in African-Americans (2012) (0)
A multiancestry analysis of Alzheimer’s disease coexpressed gene networks identifies a common immune signaling pathway regulated by granulocyte‐colony stimulating factor (G‐CSF) (2020) (0)
P1-362 Genetic evaluation of the Alzheimer’s disease locus on chromosome 9p21.3 (2006) (0)
The Loc387715 Gene Determines Risk for Development of Atrophic and Exudative Age–Related Macular Degeneration (2006) (0)
WHOLE-GENOME SEQUENCING IN NON-HISPANIC WHITE FAMILIES IMPLICATES RARE VARIATION IN LATE-ONSET ALZHEIMER’S DISEASE RISK (2018) (0)
Genetic Mapping (2016) (0)
Genome-wide study for Alzheimer’s disease in the Amish (2011) (0)
P3-240: Genome-wide analysis of gene-gene interaction in Alzheimer's disease (2008) (0)
EQTL ANALYSIS IDENTIFIES ANCESTRY SPECIFIC REGULATORY EFFECTS OF ALZHEIMER DISEASE ASSOCIATED VARIANTS (2019) (0)
Whole Exome Sequencing in the Amish identifies candidate rare variants for AMD (2016) (0)
Examination of Locational Candidate Genes In Age Related Macular Degeneration (2004) (0)
Genome-wide linkage study in the Amish shows evidence for a chromosome 3 locus in late-onset Alzheimer's disease (2010) (0)
Family-based Genome-wide Association Study in South Indian Consanguineous Pedigrees Identifies an Association between LPHN3 and Vertical Cup-disc Ratio (2019) (0)
associated Alzheimer disease risk : Development and validation of a polygenic hazard score Permalink (2017) (0)
An Association Test of the Spatial Distribution of Rare Missense Variants within Protein Structures Improves Statistical Power of Sequencing Studies (2021) (0)
Fine‐mapping of chromosome 9p21 linkage in Puerto Rican Alzheimer disease families. (2022) (0)
Distribution of Age Related Macular Degeneration Lesions in Singleton and Multiplex Families (2005) (0)
Search for protective genetic variants in Alzheimer disease in the U.S. Midwestern Amish (2020) (0)
GLC1K Is Associated With Early-Onset and Late-Onset Primary Open Angle Glaucoma (2007) (0)
P1.126 Developing a risk model for Parkinson disease (2009) (0)
P3.116 Genome-wide signiflcant conflrmation of SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease (2009) (0)
Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2020) (0)
Assessment of AD‐related plasma biomarkers in diverse ancestral populations (2021) (0)
Ancestral Analysis of the Presenilin‐1 G206A Variant Reveals it as a Founder Event on an African Haplotype in the Puerto Rican Population (2022) (0)
Genome-wide association analyses of onset age in late-onset Alzheimer disease (LOAD) demonstrate no strong effect outside of the APOE region (2013) (0)
Genetics of Alzheimer's disease: Progress and future (2010) (0)
Genetics Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG 2 as a Candidate Gene for Age-Related Macular Degeneration (2019) (0)
AFRICAN AMERICAN WHOLE EXOME SEQUENCING SUGGESTS RISK CODING VARIANTS IN IDH1 GENE (2018) (0)
Association of miR-182 with High Tension Glaucoma (2016) (0)
Mechanism for the protective effect of APOE ε2 against Alzheimer disease is linked to tau and the classical complement pathway (2020) (0)
APOE in Alzheimer ' s disease-T catenin gene ( VR 22 ) α Interaction between the (2005) (0)
The Interaction Between Endothelial Nitric Oxide Synthase Gene Variants and Hypertension in Relation to Primary Open-Angle Glaucoma (2010) (0)

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