(Q22122198)

7 February 2023

Montgomery Slatkin

Montgomery

Slatkin

1 reference

7 February 2023

Francis S. Collins

Francis S.

Collins

1 reference

7 February 2023

Michael Boehnke

Michael

Boehnke

1 reference

7 February 2023

Augustine Kong

Augustine

Kong

1 reference

7 February 2023

Evan E. Eichler

Evan E.

Eichler

1 reference

7 February 2023

Steven A. McCarroll

Steven A.

McCarroll

1 reference

7 February 2023

Peter M. Visscher

Peter M.

Visscher

1 reference

7 February 2023

Charles N Rotimi

Charles N.

Rotimi

1 reference

7 February 2023

Mark I McCarthy

Mark I.

McCarthy

1 reference

7 February 2023

Nancy J Cox

Nancy J.

Cox

1 reference

7 February 2023

Jonathan L Haines

Jonathan L.

Haines

1 reference

7 February 2023

David J Hunter

David J.

Hunter

1 reference

7 February 2023

Teri A Manolio

Teri A.

Manolio

1 reference

7 February 2023

Lucia A Hindorff

Lucia A.

Hindorff

1 reference

7 February 2023

Alice S Whittemore

Alice S.

Whittemore

1 reference

7 February 2023

Trudy F C Mackay

Trudy F. C.

Mackay

1 reference

7 February 2023

Judy H Cho

Judy H.

Cho

1 reference

7 February 2023

Andrew G Clark

Andrew G.

Clark

2 references

ORCID Public Data File 2021

7 February 2023

David B Goldstein

David B.

Goldstein

1 reference

7 February 2023

Erin M.

Ramos

Erin M Ramos

1 reference

7 February 2023

Lon R Cardon

Lon R.

Cardon

1 reference

7 February 2023

Aravinda Chakravarti

Aravinda

Chakravarti

1 reference

7 February 2023

Alan E Guttmacher

Alan E.

Guttmacher

1 reference

7 February 2023

Leonid Kruglyak

Leonid

Kruglyak

1 reference

7 February 2023

David Valle

David

Valle

1 reference

7 February 2023

Greg Gibson

Greg

Gibson

1 reference

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

7 February 2023

language of work or name

English

0 references

publication date

8 October 2009

0 references

published in

Nature

0 references

volume

461

0 references

issue

7265

0 references

page(s)

747-53

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Variants in MTNR1B influence fasting glucose levels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Common variants at 30 loci contribute to polygenic dyslipidemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Large recurrent microdeletions associated with schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Rare chromosomal deletions and duplications increase risk of schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Mapping and sequencing of structural variation from eight human genomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Advances in autism genetics: on the threshold of a new neurobiology

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

A second generation human haplotype map of over 3.1 million SNPs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Strong association of de novo copy number mutations with autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genomewide scans of complex human diseases: true linkage is hard to find

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Are rare variants responsible for susceptibility to complex diseases?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Heritability in the genomics era — concepts and misconceptions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

A comprehensive review of genetic association studies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Searching for genetic determinants in the new millennium

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Strong association of de novo copy number mutations with sporadic schizophrenia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

The impact of next-generation sequencing technology on genetics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Association between microdeletion and microduplication at 16p11.2 and autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Autism spectrum disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

The future of genetic studies of complex human diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Personal genomes: The case of the missing heritability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Integrated detection and population-genetic analysis of SNPs and copy number variation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

On the allelic spectrum of human disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Prediction of total genetic value using genome-wide dense marker maps

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Prediction and interaction in complex disease genetics: experience in type 1 diabetes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genomewide association studies and human disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Generalizability of associations from prostate cancer genome-wide association studies in multiple populations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Detection of sharing by descent, long-range phasing and haplotype imputation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Decanalization and the origin of complex disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Predicting unobserved phenotypes for complex traits from whole-genome SNP data

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genome-wide association studies: potential next steps on a genetic journey

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Extending genome-wide association studies to copy-number variation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

How to interpret a genome-wide association study

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Challenges and standards in integrating surveys of structural variation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Resolving the paradox of common, harmful, heritable mental disorders: which evolutionary genetic models work best?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Test for interaction between two unlinked loci

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Genetic dissection of human blood pressure variation: common pathways from rare phenotypes.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Using linkage genome scans to improve power of association in genome scans

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Diagnostic genome profiling in mental retardation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

The allelic architecture of human disease genes: common disease-common variant... or not?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Canalization in evolutionary genetics: a stabilizing theory?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Joint linkage of multiple loci for a complex disorder.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Multiple regions within 8q24 independently affect risk for prostate cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Sizing up human height variation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

A treasure trove for lipoprotein biology

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

2005 William Allan Award address. No longer just looking under the lamppost

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Statistical false positive or true disease pathway?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2831613

Variations on a theme: cataloging human DNA sequence variation

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19812666

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polygenes, risk prediction, and targeted prevention of breast cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19812666

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NATURE08494

1 reference

0 references

1 reference

1 reference

PubMed publication ID

19812666

1 reference