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List of works by John R. B. Perry

1067 Preeclampsia associated genetic variants near FLT1 are associated with elevated late pregnancy maternal serum sFLT1

scholarly article

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A Robust Example of Collider Bias in a Genetic Association Study

scientific article published on February 2016

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

scientific article

A common variant of HMGA2 is associated with adult and childhood height in the general population

scientific article

A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine

scientific article published on 20 May 2008

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

scientific article

A genome-wide association study of early menopause and the combined impact of identified variants

scientific article published on 9 January 2013

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels

scientific article

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article

A robust example of collider bias in a genetic association study

article

Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer

scientific article

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

scientific article published on October 2016

Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors

scientific article published on 01 December 2018

Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes

scientific article

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

scientific article published on 04 April 2013

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

scientific article

Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study

scientific article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Associations of vomiting and antiemetic use in pregnancy with levels of circulating GDF15 early in the second trimester: A nested case-control study

scientific article published on 21 September 2018

Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

scientific article published on 01 December 2018

Author Correction: GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability

scientific article published on 01 July 2019

Biomarkers for type 2 diabetes and impaired fasting glucose using a nontargeted metabolomics approach

scientific article (publication date: December 2013)

Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

scientific article

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals

scientific article

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study

scientific article

Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study

scientific article published on 29 January 2009

Correction: Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

scientific article published on 05 December 2019

Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

scientific article

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

scientific article published on 17 December 2015

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

scientific article published on 19 December 2013

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery and fine mapping of serum protein loci through transethnic meta-analysis

scientific article

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

scientific article published on 26 September 2016

Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms

scientific article

Elucidating the genetic architecture of reproductive ageing in the Japanese population

scientific article

Elucidating the genetic basis of social interaction and isolation.

scientific article

Epigenome-Wide Association Study of Incident Type 2 Diabetes in a British Population: EPIC-Norfolk Study

scientific article published on 10 September 2019

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article published on 12 May 2015

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

Events in Early Life are Associated with Female Reproductive Ageing: A UK Biobank Study

scientific article published on 20 April 2016

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

scientific article

Exploring the genetic correlations of antisocial behaviour and life history traits

scientific article published on 05 November 2018

GWAS of epigenetic aging rates in blood reveals a critical role for TERT.

scientific article published on 26 January 2018

GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia

scientific article published on 27 August 2018

GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

scientific article published on 17 October 2019

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

scientific article published on 04 September 2019

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

article

Genetic Determinants of Circulating Estrogen Levels, and Evidence of a Causal Effect of Estradiol on Bone Density in Men.

scientific article published on 9 January 2018

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

scientific article

Genetic Regulation of Puberty Timing in Humans.

scientific article published on 7 May 2015

Genetic association study of childhood aggression across raters, instruments, and age

scientific article

Genetic basis of falling risk susceptibility in the UK Biobank Study

scientific article published on 30 September 2020

Genetic determinants of serum testosterone concentrations in men.

scientific article

Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes

scientific article

Genetic evidence of assortative mating in humans

scholarly article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

scientific article published on 18 November 2009

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

Genetic predisposition to mosaic Y chromosome loss in blood

scientific article published on 20 November 2019

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

scientific article

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

scientific article published on 27 March 2017

Genome studies must account for history-Response

scientific article published on 01 December 2019

Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior.

scientific article published on 4 October 2017

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide analysis of health-related biomarkers in the UK Household Longitudinal Study reveals novel associations

scientific article published on 8 September 2017

Genome-wide association analysis identifies 27 novel loci associated with uterine leiomyomata revealing common genetic origins with endometriosis

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

scientific article

Genome-wide association study for risk taking propensity indicates shared pathways with body mass index

Genome-wide association study identifies common and low-frequency variants at the AMH gene locus that strongly predict serum AMH levels in males

scientific article

Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation

scientific article published on 4 May 2017

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

scientific article published in 2023

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.

scientific article

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

scientific article (publication date: 2012)

Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes

scientific article

Genome-wide meta-analysis of common variant differences between men and women

scientific article published on 27 July 2012

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan ⬇️

scientific article published on 24 March 2020

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

scientific article

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

scientific article published on 9 April 2018

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity

article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

scientific article published on 27 April 2016

Identification of a unique epigenetic profile in women with diminished ovarian reserve

scientific article published on 30 November 2020

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study

scientific article published on 21 February 2018

Identifying genetic variants that affect viability in large cohorts

scientific article published on 5 September 2017

Immune cells lacking Y chromosome have widespread dysregulation of autosomal genes

scientific article published on 18 June 2019

Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

scientific article published in April 2021

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation

scientific article

Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

scientific article

Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach

scientific article

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

scientific article

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

scientific article published on 12 July 2017

Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior

scientific article published on 29 August 2019

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

scientific article published on 19 December 2018

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk

scientific article published on 30 December 2011

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

scientific article published on 01 May 2019

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

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

scientific article

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

scientific article

Molecular insights into the aetiology of female reproductive ageing.

scientific article published on 13 October 2015

New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function

scientific article published on July 2008

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

scientific article published on February 2016

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Partitioning heritability by functional annotation using genome-wide association summary statistics

scientific article

Penetrance of Pathogenic Genetic Variants Associated With Premature Ovarian Insufficiency

scholarly article

Physical and neurobehavioral determinants of reproductive onset and success

scientific article

Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes

scientific article

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study

scientific article published on 18 June 2015

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare coding variants and X-linked loci associated with age at menarche

scientific article

Replication and characterization of CADM2 and MSRA genes on human behavior

scientific article published on 26 July 2017

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

scientific article (publication date: June 2007)

Season of birth is associated with birth weight, pubertal timing, adult body size and educational attainment: a UK Biobank study

scientific article published on 12 October 2015

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Shared genetic aetiology of puberty timing between sexes and with health-related outcomes

scientific article

Shared genetic factors for age at natural menopause in Iranian and European women

scientific article published on 16 April 2013

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

scientific article

The NEMP family supports metazoan fertility and nuclear envelope stiffness

scientific article published on 28 August 2020

The UK10K project identifies rare variants in health and disease

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Type 2 diabetes risk alleles are associated with reduced size at birth

scientific article published on 19 February 2009

Using human genetics to understand the disease impacts of testosterone in men and women

scientific article published on 10 February 2020

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

scientific article published on 23 May 2017

Whole-genome sequence-based analysis of thyroid function.

scientific article

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

scientific article

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