List of works - Margaret A. Pericak-Vance

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)

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

scientific article (publication date: August 1993)

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

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

scientific article

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

scientific article

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

scientific article (publication date: 27 February 2009)

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

scientific article

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

scientific article (publication date: 15 April 2005)

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

scientific article published on 15 July 2010

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

scientific article

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

scientific article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Risk alleles for multiple sclerosis identified by a genomewide study

scientific article (publication date: 30 August 2007)

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

scientific article (publication date: May 2004)

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

scientific article published on October 1993

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease

scientific article

Patterns of brain activation in people at risk for Alzheimer's disease.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 29 September 2013

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

scientific article

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

scientific article published on 24 September 2006

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

scientific article

Seven new loci associated with age-related macular degeneration

scientific article

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

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

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

scientific journal article

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

scientific article (publication date: October 2001)

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

Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease

scholarly article

No gene is an island: the flip-flop phenomenon

scientific article published on 22 January 2007

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

scientific article (2010)

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

scientific article

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

scientific article (publication date: April 2003)

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

scientific article

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

scientific article

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

scientific article

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group

scientific article published on 01 August 1996

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

scientific article

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

scientific article

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

scientific article

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

scientific article published in Nature

Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease

scientific article

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

scientific article

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

scientific article

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease

scientific article

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism

scientific article

Delayed onset of Alzheimer's disease with nonsteroidal anti-inflammatory and histamine H2 blocking drugs

scientific article published in July 1995

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

scientific journal article

Age at onset in two common neurodegenerative diseases is genetically controlled

scientific article published on March 2002

List of works by Margaret A. Pericak-Vance

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

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

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

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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

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

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

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

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

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Risk alleles for multiple sclerosis identified by a genomewide study

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease

Patterns of brain activation in people at risk for Alzheimer's disease.

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

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

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

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Seven new loci associated with age-related macular degeneration

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

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

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

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

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

Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease

No gene is an island: the flip-flop phenomenon

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

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

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

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

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group

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

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

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

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease

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

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism

Delayed onset of Alzheimer's disease with nonsteroidal anti-inflammatory and histamine H2 blocking drugs

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

Age at onset in two common neurodegenerative diseases is genetically controlled