List of works by Jonathan L Haines

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

scientific article

A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains

scientific article published on 18 January 2017

A DNA segment encoding two genes very tightly linked to Huntington's disease

scientific article published in November 1987

A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease

scientific article

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

scientific article published on 19 June 2017

A comparative analysis of the information content in long and short SAGE libraries

scientific article

A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease

scientific article published on November 1990

A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36

scientific article published on 01 March 1997

A genetic linkage map of chromosome 17

scientific article published on 01 September 1990

A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age

scientific article published on March 1, 1992

A genetic linkage map of human chromosome 9q

scientific article published on November 1, 1992

A genetic linkage map of the chromosome 4 short arm.

scientific article published in January 1993

A genetic linkage map of the long arm of human chromosome 22.

scientific article published on January 1989

A genetic map of chromosome 1: comparison of different data sets and linkage programs

scientific article

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

scientific article

A genome-wide linkage analysis of dementia in the Amish

scientific article published on March 2006

A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6

scientific article

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study

scientific article

A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.

scientific article

A high-density screen for linkage in multiple sclerosis

scientific article

A high-resolution linkage map of human 9q34.1.

scientific article published on 01 September 1993

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism

scientific article published in November 2004

A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.

scientific article

A multi-investigator/institutional DNA bank for AIDS-related human genetic studies: AACTG Protocol A5128.

scientific article

A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p.

scientific article published on 11 April 2011

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

scientific article

A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis

scientific article

A novel ARMS2 splice variant is identified in human retina

scientific article published on 22 November 2011

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

A population-specific reference panel empowers genetic studies of Anabaptist populations

scientific article

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

scientific article

A second locus for Rieger syndrome maps to chromosome 13q14

scientific article

A second major histocompatibility complex susceptibility locus for multiple sclerosis

scientific article published on March 2007

A second-generation genomic screen for multiple sclerosis

scientific article

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

scientific article

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

scientific article

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

scientific article

APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation

scientific article

ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

scientific article published on 6 February 2017

Age at onset in two common neurodegenerative diseases is genetically controlled

scientific article published on March 2002

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

scientific article

Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions

scientific article

Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis

scientific article published in June 2006

Alzheimer Disease: Perspectives from Epidemiology and Genetics

article

Alzheimer's disease and apolipoprotein E-4 allele in an Amish population.

scientific article published in June 1996

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

scientific article published on 4 November 2011

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.

scientific article published in May 1999

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.

scientific article

An autosomal genomic screen for autism. Collaborative linkage study of autism

scientific article (publication date: 15 December 1999)

An autosomal genomic screen for dementia in an extended Amish family.

scientific article published in May 2005

An index marker map of chromosome 9 provides strong evidence for positive interference

scientific article

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

scientific article published on 15 February 2018

Analysis of European mitochondrial haplogroups with Alzheimer disease risk

scientific article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration

scientific article

Analysis of the RELN gene as a genetic risk factor for autism

scientific article

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes

scientific article published in December 2004

Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.

scientific article

Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration

scientific article published on 25 February 2010

ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative.

scientific article published in January 1997

Apolipoprotein E controls the risk and age at onset of Parkinson disease

scientific article published in June 2004

Apolipoprotein E epsilon2 does not increase risk of early-onset sporadic Alzheimer's disease

scientific article published in September 1997

Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives

article

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

scientific article published on 2 October 2004

Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases.

scientific article published in January 1995

Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium?

scientific article published in July 1994

Assay for Transposase-Accessible Chromatin Using Sequencing (ATAC-seq) Data Analysis

scientific article

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

scientific article published on September 2016

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records

scientific article

Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases

scientific article published on August 1, 1992

Assessment of the genetic variance of late-onset Alzheimer's disease

scientific article published on 03 March 2016

Association analysis of genetic polymorphisms in the CDC2 gene with late-onset Alzheimer disease.

scientific article published on 8 December 2006

Association between apolipoprotein E genotype and Alzheimer disease in African American subjects

scientific article published in April 2002

Association between bleomycin hydrolase and Alzheimer's disease in caucasians

scientific article published in November 1998

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss

scientific article published on 25 October 2013

Association of COMT haplotypes and breast cancer risk in caucasian women

scientific article

Association of CYP1B1 haplotypes and breast cancer risk in Caucasian women

scientific article published on 17 March 2009

Association of Genetic Variants with Primary Open-Angle Glaucoma among Individuals with African Ancestry

scientific article published on 01 November 2019

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

scientific article

Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels

scientific article

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry

scientific article published on 01 March 2019

Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis

scientific article

Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis

scientific article (publication date: March 2002)

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease

scientific article

Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender

scientific article published on 31 December 2000

Association study of Parkin gene polymorphisms with idiopathic Parkinson disease

scientific article published on July 2003

Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations.

scientific article published on 25 April 2018

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

scientific article published in Nature Communications

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Automated extraction of clinical traits of multiple sclerosis in electronic medical records

scientific article published on 22 October 2013

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene

scientific article (publication date: March 2004)

Beyond proof of principle: new genes for Alzheimer's disease through collaboration

scientific article

Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network

scientific article

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

scientific article

Bringing the genetics of macular degeneration into focus

scholarly article

C3 R102G polymorphism increases risk of age-related macular degeneration

scientific article

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease

scientific article published on 12 July 2013

CALHM1 polymorphism is not associated with late-onset Alzheimer disease

scientific article

CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis. Multiple Sclerosis Genetics Group

scientific article published on April 2000

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States

scientific article published on 27 October 2012

CEPH Consortium Map of Chromosome 9

scientific article published on 01 January 1994

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis

scientific article

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation

scientific article published on 31 March 2008

Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants

scientific article published on 6 October 2017

Causes of death in Huntington disease as reported on death certificates

scientific article published in January 1986

Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17

scientific article published on 01 August 1989

Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans

scientific article

Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

scientific article (publication date: March 1998)

Chromosome 17q22–q24 and multiple sclerosis genetic susceptibility

article

Chromosome 21 genetic linkage data set based on the Venezuelan reference pedigree

scientific article published on January 1, 1992

Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration

scientific article

Class II HLA interactions modulate genetic risk for multiple sclerosis

scientific article published on 07 September 2015

Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis

scientific article

Clinical findings and linkage studies in familial tuberous sclerosis

scientific article published on 01 January 1991

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

scientific article published on June 29, 1995

Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study.

scientific article published in November 2006

Clustering of multiallele DNA markers near the Huntington's disease gene

scientific article published in September 1989

Coding variants in ARMS2 and the risk of age-related macular degeneration

scientific article published in June 2013

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish

scientific article

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

scientific article

Common genetic variants on 5p14.1 associate with autism spectrum disorders

scientific article

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma

scientific article

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

scientific article

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

scientific article published on 7 June 2021

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

scientific article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA

scientific article published on 26 August 2011

Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17

scientific article

Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families

scientific article published in May 2005

Complement factor H variant increases the risk of age-related macular degeneration

scientific article (publication date: 15 April 2005)

Complete genomic screen in Parkinson disease: evidence for multiple genes.

scientific article

Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12.

scientific article published in October 1997

Complete genomic screen in late-onset familial Alzheimer's disease.

scientific article published in January 1998

Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes

article

Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.

scientific article

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region

scientific article published on October 2012

Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22.

scientific article

Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis

scientific article

Construction of a GT polymorphism map of human 9q

scientific article published on February 1, 1992

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

scientific article

Correcting away the hidden heritability

scientific article published on 24 February 2011

Correction: Enabling Genomic-Phenomic Association Discovery without Sacrificing Anonymity

scientific article published on 18 June 2013

Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

scientific article published on 8 July 2013

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus.

scientific article

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

scientific article

D2 dopamine receptor A1 allele in Alzheimer disease and aging

scientific article

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma

scientific article

DNA linkage analysis of X chromosome-linked chronic granulomatous disease

scientific article published on May 1986

DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity

scientific article

DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient

scientific article

DRUG-DRUG INTERACTION PROFILES OF MEDICATION REGIMENS EXTRACTED FROM A DE-IDENTIFIED ELECTRONIC MEDICAL RECORDS SYSTEM

scientific article

Defining the autism minimum candidate gene region on chromosome 7.

scientific article published on February 2003

Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation

scientific article

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities

scientific journal article

Dense linkage disequilibrium mapping in the 15q11-q13 maternal expression domain yields evidence for association in autism

scientific article

Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study

scientific article published in April 2003

Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy

scientific article

Detailed genetic linkage map of human chromosome 21: patterns of recombination according to age and sex.

scientific article published on January 1990

Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease

scientific article published on 29 September 2005

Different gene loci for hyperkalemic and hypokalemic periodic paralysis

scientific article published on 01 January 1991

Dinucleotide repeat polymorphism at the debrisoquine 4-hydroxylase (CYP2D) locus

scientific article published on May 1991

Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2).

scientific article

Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1

scientific article published on October 1, 1992

Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium

scientific article

Disease gene prioritization by integrating tissue-specific molecular networks using a robust multi-network model

scientific article

Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease

scientific article published on 09 November 2018

Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14.

scientific article published on 19 December 2006

Dissecting trait heterogeneity: a comparison of three clustering methods applied to genotypic data

scientific article

Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility

scientific article

Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.

scientific article

Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma

scientific article

Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States

scientific article published in October 2006

Do alterations in mitochondrial DNA play a role in breast carcinogenesis?

scientific article

Drug Transporter and Metabolizing Enzyme Gene Variants and Nonnucleoside Reverse-Transcriptase Inhibitor Hepatotoxicity

article

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis

scientific article

Early detection of Alzheimer's disease by combining apolipoprotein E and neuroimaging.

scientific article published in December 1996

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

scientific article

Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease.

scientific article published in November 2007

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

scientific article

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

scientific article

Enabling genomic-phenomic association discovery without sacrificing anonymity

scientific article

Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with hypertension, alcohol intake, and cigarette smoking

scientific article published in June 2011

Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use.

scientific article

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping

article

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records

scientific article

Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium

scientific article

Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models

scientific article published on 14 October 2015

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States

scientific article published on 12 July 2013

Evaluating mitochondrial DNA variation in autism spectrum disorders

scientific article published on 6 November 2012

Evaluating power and type 1 error in large pedigree analyses of binary traits

scientific article

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

scientific article

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease

scientific article

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals

scientific article

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Evidence for major gene inheritance of Alzheimer disease in families of patients with and without apolipoprotein E epsilon 4

scientific article published in September 1996

Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come

scientific article

Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.

scientific article

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

scientific article

Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes

scientific article

Examination of association of genes in the serotonin system to autism

scientific article

Examination of association to autism of common genetic variationin genes related to dopamine

scientific article

Examination of candidate exonic variants for association to Alzheimer disease in the Amish

scientific article

Examination of candidate genes in language disorder: a model of genetic association for treatment studies

scientific article

Examination of tetrahydrobiopterin pathway genes in autism

scientific article published on 14 July 2009

Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study

scientific article published on 03 February 2020

Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome.

scientific article published on May 1995

Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function

scientific article published on 31 July 2017

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

scientific article published on 10 January 2014

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13

scientific article (publication date: July 2003)

Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis

scientific article published in August 2012

Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies

scientific article published on 10 June 2015

FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4

scientific article

Familial Alzheimer's disease: progress and problems

scientific article published on September 1989

Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?

scientific article published in September 2006

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

scientific article

Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples

scientific article

Finding the missing heritability of complex diseases

scientific article

Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes

scientific article published on 21 July 2008

Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity

scientific article

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.

scientific article

Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1)

scientific article

Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis

scientific article

Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene

scientific article

Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil

scientific article published in January 2004

Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6

scientific article

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Further evidence linking late-onset Alzheimer disease with chromosome 12.

scientific article published in February 1999

GATA2 is associated with familial early-onset coronary artery disease

scientific article

GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis

scientific article published on 09 June 2016

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

scientific article

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

scientific article (publication date: 13 August 1993)

Gene linkage in familial amyotrophic lateral sclerosis: a progress report.

scientific article published in January 1991

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Genetic Association Analysis of Drusen Progression

scientific article published on April 2016

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset

scientific article published on 01 January 1991

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

scientific article published on 27 February 2018

Genetic analysis of biological pathway data through genomic randomization

scientific article

Genetic analysis of complex diseases

scientific article published on 01 February 1997

Genetic and physical mapping of the GLUR5 glutamate receptor gene on human chromosome 21

scientific article published on 01 November 1994

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

scientific article

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

scientific article

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis

scientific article published on 30 August 2017

Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study

scientific article

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

scientific article

Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis

scientific journal article

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers

scientific article published in May 1994

Genetic linkage map of human chromosome 21

scientific article published on 01 August 1988

Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees

scientific article published on 01 May 1994

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

scientific article published in Nature

Genetic linkage studies in Alzheimer's disease families.

scientific article published in December 1988

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

scientific article published in September 1990

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

scientific article

Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease

scientific article published on 01 April 2003

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic susceptibility to Alzheimer disease

scientific article published on December 1995

Genetic variants and functional pathways associated with resilience to Alzheimer's disease

scientific article published on 01 August 2020

Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population

scientific article

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

scientific article (2010)

Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network

scientific article

Genetic variation in TP53 and risk of breast cancer in a population-based case control study.

scientific article published on 21 April 2007

Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis

scientific article

Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility

scientific article

Genetic-based prediction of disease traits: prediction is very difficult, especially about the future

scientific article

Genetically meaningful phenotypic subgroups in autism spectrum disorders

scientific article published on 27 January 2014

Genetics and pathogenesis of multiple sclerosis

scientific article

Genetics, statistics and human disease: analytical retooling for complexity

scientific article

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

scientific article published on 05 March 2013

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

scientific article

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia

scientific article

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

scientific article

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

scientific article

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

scientific article published on 06 January 2013

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

scientific article published on 11 January 2016

Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene

scientific journal article

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias

scientific article

Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration

scientific article

Genome-wide association study and meta-analysis of intraocular pressure

scientific article published on 04 September 2013

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

scientific article

Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.

scientific article published on 15 February 2009

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

scientific article published on 28 February 2017

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease

scientific article published on January 2009

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

scientific article

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci

scientific article

Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease

scientific article published on 20 February 2018

Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.

scientific article published on March 2009

Genotype at polymorphism rs11200638 and HTRA1 expression level

scientific article published on November 1, 2010

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

scientific article

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease

scientific article (publication date: 15 December 2003)

HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course

scientific article

Head injury and the risk of AD in the MIRAGE study

scientific article

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

scientific article published on June 1996

Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis

scientific article published on 11 August 2006

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred

scientific article published on May 2002

Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism

scientific article published on 01 July 1988

Hunting genetic diseases: exploring a multistage approach to identifying disease loci

scientific article published on 01 January 1999

Huntington disease: no evidence for locus heterogeneity

scientific article published in August 1989

Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

scientific article

Identification and confirmation of an exonic splicing enhancer variation in exon 5 of the Alzheimer disease associated PICALM gene

scientific article published on 4 September 2012

Identification of Novel Genes in Late-Onset Alzheimer's Disease

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Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

scientific article published on 15 September 2013

Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21

article

Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science

scientific article

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder

scientific article published on 18 November 2017

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

scientific article

Improved predictive testing for Huntington disease by using three linked DNA markers

scientific article

Imputation and quality control steps for combining multiple genome-wide datasets

scientific article

Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer

scientific article published in February 2004

Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP)

scientific article published on 14 May 2013

Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration.

scientific article published on 22 January 2007

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

scientific article published on 30 January 2013

Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease

scientific article published in October 2005

Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis

scientific article

Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex

scientific article

Introducing COCOS: codon consequence scanner for annotating reading frame changes induced by stop-lost and frame shift variants

scientific article

Inverse association of female hormone replacement therapy with age-related macular degeneration and interactions with ARMS2 polymorphisms

scientific article

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

scientific article

Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study

scientific article published in November 2003

Isolation of a novel gene underlying batten disease, CLN3

article

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

scientific article published in August 2017

Joint effects of smoking history and APOE genotypes in age-related macular degeneration

scientific article published on 4 November 2005

KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers

scientific article

LIPIN: an interactive data entry and management program for LIPED.

scientific article published in July 1986

LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population

scientific article

Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis.

scientific article published in March 1998

Lack of association between autism and SLC25A12

scientific article (publication date: May 2006)

Lack of association between autism and four heavy metal regulatory genes

scientific article published on 20 July 2011

Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma

scientific article

Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma

scientific article published on 26 December 2008

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

scientific article published on June 2010

Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits

scientific article published on 28 July 2015

Leveraging Identity-by-Descent for Accurate Genotype Inference in Family Sequencing Data

scientific article

Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease

scientific article

Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

scientific article published on 26 January 2004

Linkage analysis in juvenile neuronal ceroid lipofuscinosis

scientific article published on February 1992

Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17

scientific article published on 01 December 1987

Linkage analysis of candidate myelin genes in familial multiple sclerosis

article

Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism

scientific article published in May 2004

Linkage and association of successful aging to the 6q25 region in large Amish kindreds

scientific article published on 07 July 2012

Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3.

scientific article

Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis

scientific article published in June 2004

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

scientific article

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

scientific article published on January 1994

Linkage localization of X-linked Charcot-Marie-Tooth disease.

scientific article

Linkage map of anonymous loci near the CF gene

scientific article published on 01 January 1989

Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

scientific article

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

scientific article published on July 1994

Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria

scientific article

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16

scientific article

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity

scientific article

Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere

scientific article published in August 1987

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

scientific article published in June 1993

Low frequency and rare coding variation contributes to multiple sclerosis risk

Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.

scientific article published in July 1994

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans

scientific article

Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4.

scientific article

Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma

scientific article

Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy

scientific article published on 01 April 1992

Maternal lineages and Alzheimer disease risk in the Old Order Amish.

scientific article published on 28 October 2005

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

scientific article

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

scientific article published on 28 January 2015

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

scientific article

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

scientific article published on 29 June 2005

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

scientific article

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

scientific article

Methods for analysis in pharmacogenomics: lessons from the Pharmacogenetics Research Network Analysis Group

scientific article published on February 2009

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.

scientific article

Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus

scientific article

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration

scientific article

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

scientific article (publication date: April 2003)

Mitochondrial haplogroup X is associated with successful aging in the Amish

scientific article published on 13 July 2011

Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study

scientific article published on September 2005

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene

scientific article published on August 1, 1992

Molecular genetics of Huntington's disease

scientific article published on 01 January 1986

Molecular genetics of familial Alzheimer's disease

scientific article

Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans

scientific article

Multiple susceptibility loci for multiple sclerosis

scientific article published on 01 September 2002

Multipoint linkage analysis of spinocerebellar ataxia and markers on chromosome 6

scientific article published on 01 January 1986

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

article

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

scientific article

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

scientific article

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred

scientific article

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

scientific article published on 10 January 2017

No association between SNP rs498055 on chromosome 10 and late-onset Alzheimer disease in multiple datasets.

scientific article published on 24 August 2007

No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.

scientific article published in December 1996

No association between the HLA-A2 allele and Alzheimer disease.

scientific article published on September 1999

No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians.

scientific article published in May 1996

No association of alpha1-antichymotrypsin flanking region polymorphism and Alzheimer disease risk in early- and late-onset Alzheimer disease patients

scientific article

No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease

scientific article published in 1997

No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease.

scientific article published in March 1998

No genetic effect of alpha1-antichymotrypsin in Alzheimer disease.

scientific article published in April 1996

Norrie disease gene is distinct from the monoamine oxidase genes.

scientific article

Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis

scientific article published on 19 October 2020

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

scientific article

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia

scientific article

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

One for all and all for One: Improving replication of genetic studies through network diffusion.

scientific article published on 23 April 2018

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12

scientific article

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

scientific article

Osteopontin polymorphisms and disease course in multiple sclerosis

scientific article published in June 2003

Overall diet quality and age-related macular degeneration

scientific article published on January 2010

Overview of linkage analysis in complex traits

scientific article published in January 2010

PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility

scientific article

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

scientific article published on 29 July 2014

PRNP M129V homozygosity in multiple system atrophy vs. Parkinson's disease

scientific article published on 30 January 2008

PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients

scientific article published in September 2001

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease

article

Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes

scientific article published on 01 January 1988

Pathway analysis by randomization incorporating structure-PARIS: an update

scientific article published on 7 March 2016

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease

scientific article published on 8 February 2007

Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration

scientific article published on 11 December 2007

Peripherin gene is linked to keratin 18 gene on human chromosome 12

scientific article published on 01 January 1995

PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

scientific article

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

scientific article

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

scientific article

Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease

scientific article published on 03 July 2008

Population differences in genetic risk for age-related macular degeneration and implications for genetic testing

scientific article published in January 2012

PowerTrim: An automated decision support algorithm for preprocessing family-based genetic data

scientific article

Presenilin-1 polymorphism and Alzheimer's disease

scientific article published on 01 April 1996

Presenilin-1 polymorphism and Alzheimer's disease

scientific article published on 01 June 1996

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma

scientific article published on November 1998

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

scientific article

Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation

scientific article published on March 2008

Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease

scientific article published on February 1, 1992

Putting pleiotropy and selection into context defines a new paradigm for interpreting genetic data

scientific article

Quality Control for the Illumina HumanExome BeadChip

scientific article published on July 2016

Quality control procedures for genome-wide association studies

scientific article published in 2011

REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996

scientific article published on May 1, 1997

REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22?24 March, 1992

scientific article published on 01 July 1992

Rapidly progressive Alzheimer's disease features distinct structures of amyloid-β.

scientific article published on 15 February 2015

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Rare complement factor H variant associated with age-related macular degeneration in the Amish

scientific article

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

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

scientific article

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

scientific article

Recurrent tissue-specific mtDNA mutations are common in humans

scientific article

Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

scientific article

Relationship between depressive symptoms and cognition in older, non-demented African Americans

scientific article

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

scientific article published on 27 October 2012

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

scientific article published on 18 March 2009

Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993

scientific article published on 01 January 1993

Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994.

scientific article published on July 1994

Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma.

scientific article

Resolving the relationship between ApolipoproteinE and depression

scientific article

Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases

scientific article

Risk alleles for multiple sclerosis identified by a genomewide study

scientific article (publication date: 30 August 2007)

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record

scientific article

SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach

scientific article

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk

scientific article

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

scientific article

Search for the familial Alzheimer's disease gene

scientific article published on 01 January 1987

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

scientific article published on 14 January 2016

Sequence Analysis and Mapping of a Novel Human Mitochondrial ATP Synthase Subunit 9 cDNA (ATP5G3)

scientific article published on November 15, 1994

Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility

scientific article published in May 2001

Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.

scientific article published in November 1992

Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q.

scientific article

Set-based joint test of interaction between SNPs in the VEGF pathway and exogenous estrogen finds association with age-related macular degeneration

scientific article

Seven new loci associated with age-related macular degeneration

scientific article

Sex differences in the genetic predictors of Alzheimer's pathology

scientific article published on 01 September 2019

Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau

scientific article published on 01 August 2018

Sex-specific genetic predictors of Alzheimer's disease biomarkers

scientific article published on 02 July 2018

Size matters: how population size influences genotype-phenotype association studies in anonymized data

scientific article

Successful aging shows linkage to chromosomes 6, 7, and 14 in the Amish

scientific article published on July 2011

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

scientific article

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

scientific article published on 7 July 2015

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

scientific article published on 8 April 2017

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

scientific article published in February 2018

The ARMS2 A69S variant and bilateral advanced age-related macular degeneration

scientific article

The Alzheimer's Disease Sequencing Project: Study design and sample selection

scientific article published on 13 October 2017

The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review

scientific article

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

scientific article

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

scientific article (publication date: October 2013)

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures

scientific article

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables

scientific article

The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study

scientific article

The PhenX Toolkit: get the most from your measures

scientific article

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.

scientific article published in August 2003

The Relationship Between Reticular Pseudodrusen and Severity of AMD

scientific article published on 8 December 2015

The apolipoprotein E E4 allele and sex-specific risk of Alzheimer's disease.

scientific article published in February 1995

The distinction between juvenile and adult-onset primary open-angle glaucoma

scientific article

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

scientific article

The genetic defect causing familial Alzheimer's disease maps on chromosome 21.

scientific article

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.

scientific article published in September 1987

The glycinamide ribonucleotide transformylase (GART) gene is not responsible for familial amyotrophic lateral sclerosis

scientific article published on 01 March 1993

The impact of the human genome project on complex disease

scientific article published on 16 July 2014

The importance of rare DNA variation in neurologic disease: cautionary tale

scientific article published on 13 February 2013

The intelligent use and clinical benefits of electronic medical records in multiple sclerosis

scientific article

The molecular genetics of eye diseases

scientific article published in August 2017

The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma

scientific article

The role of the CD58 locus in multiple sclerosis

scientific article

The ubiquilin 1 gene and Alzheimer's disease.

scientific article published in June 2005

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?

scientific article published in February 2004

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

scientific article published on 6 February 2017

Two independent dinucleotide repeat polymorphisms at the D21S235 locus (21q22.1)

scientific article published on November 1, 1992

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

scientific article

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

scientific article published on 19 October 2016

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

scientific article

Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration

scientific article (publication date: 24 March 2011)

Using the PhenX Toolkit to Add Standard Measures to a Study

scientific article

Using the PhenX Toolkit to Add Standard Measures to a Study

article

Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina

scientific article

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

scientific article

Variation within DNA repair pathway genes and risk of multiple sclerosis

scientific article published on 3 June 2010

Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma

scientific article published on 27 May 2013

Vitamin D from different sources is inversely associated with Parkinson disease

scientific article

Vitamin D receptor and Alzheimer's disease: a genetic and functional study

scientific article

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

scientific article

Whole exome sequencing of extreme age-related macular degeneration phenotypes

scientific article published on 29 August 2016

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.

scientific article published on 13 March 2018

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

scientific article

Whole-genome amplification of oral rinse self-collected DNA in a population-based case-control study of breast cancer.

scientific article published in August 2007

eMERGEing progress in genomics-the first seven years

scientific article