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List of works by Kerrin S. Small

A Bayesian approach using covariance of single nucleotide polymorphism data to detect differences in linkage disequilibrium patterns between groups of individuals

scientific 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 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 study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort

scientific article

A genotype calling algorithm for the Illumina BeadArray platform

scientific article published on 10 September 2007

A haplome alignment and reference sequence of the highly polymorphic Ciona savignyi genome

scientific article

A novel method for haplotype clustering and visualization

scientific article published in January 2010

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

ABCC5 transporter is a novel type 2 diabetes susceptibility gene in European and African American populations

scientific article

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

scientific article published on September 2016

Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort

scientific article published on 8 December 2017

Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility

scientific article

An integrated epigenomic analysis for type 2 diabetes susceptibility loci in monozygotic twins

scientific article

Assessing genuine parents-offspring trios for genetic association studies

scientific article

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

article

Cell type-specific genetic regulation of gene expression across human tissues

scientific article published on 01 September 2020

Cell-Type Heterogeneity in Adipose Tissue Is Associated with Complex Traits and Reveals Disease-Relevant Cell-Specific eQTLs

scientific article published on 23 May 2019

Chaining Algorithms for Alignment of Draft Sequence

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

scientific article published on 11 December 2020

Concordance for clonal hematopoiesis is limited in elderly twins

scientific article published on 01 January 2020

Correction: Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations.

scientific article published on 27 June 2013

Current smoking and COVID-19 risk: results from a population symptom app in over 2.4 million people

scientific article published on 05 January 2021

Current tobacco smoking and risk from COVID-19: results from a population symptom app in over 2.4 million people

scientific article published on 21 May 2020

Detecting and characterizing genomic signatures of positive selection in global populations

scientific article published on 23 May 2013

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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

scientific article

Epigenetic findings in periodontitis in UK twins: a cross-sectional study

scientific article published on 13 February 2019

Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population

scientific article

Erratum: Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

scholarly article published in Nature Genetics

Erratum: Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2

scholarly article published in Nature Genetics

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

scientific article published on 23 January 2018

Estrogen receptor α controls metabolism in white and brown adipocytes by regulating Polg1 and mitochondrial remodeling

scientific article published on 01 August 2020

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Exome-wide association study of plasma lipids in >300,000 individuals

scientific article published on 30 October 2017

Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity

scientific article

Extent, causes, and consequences of small RNA expression variation in human adipose tissue

scientific article

Extreme genomic variation in a natural population

scholarly article

Fasting and time of day independently modulate circadian rhythm relevant gene expression in adipose and skin tissue

article

Gene expression changes with age in skin, adipose tissue, blood and brain

scientific article

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

scientific article

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

scientific article

Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood

scientific article published on 7 September 2017

Genetic interactions affecting human gene expression identified by variance association mapping

scientific article

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

scientific article

Genome-wide and fine-resolution association analysis of malaria in West Africa

scientific article

Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.

scientific article

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 study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

scientific article

Genome-wide comparisons of variation in linkage disequilibrium

scientific article published on 18 June 2009

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

scientific article

Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements.

scientific article published in December 2013

Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements

scientific article published on 31 October 2013

Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age

scientific article published on 25 November 2019

Human metabolic individuality in biomedical and pharmaceutical research

scientific article (publication date: 31 August 2011)

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

scientific article

Imputation-based meta-analysis of severe malaria in three African populations

scientific article

Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity

scientific article published on 16 September 2015

Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS.

scientific article

Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus

article

Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Mapping cis- and trans-regulatory effects across multiple tissues in twins

scientific article published on 02 September 2012

Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus

scientific article

Metabolomic profiling to dissect the role of visceral fat in cardiometabolic health

scientific article published on 30 April 2016

Methodological challenges of genome-wide association analysis in Africa ⬇️

scientific article (publication date: February 2010)

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

Nuclear genetic regulation of the human mitochondrial transcriptome

scientific article published on 18 February 2019

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Perturbation analysis: a simple method for filtering SNPs with erroneous genotyping in genome-wide association studies

scientific article published on 6 February 2008

Positive selection of a CD36 nonsense variant in sub-saharan Africa, but no association with severe malaria phenotypes

scientific article published on 29 April 2009

Power consequences of linkage disequilibrium variation between populations

scientific article published on February 2009

Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues

scientific article

Predicting causal variants affecting expression using whole genome sequence and RNA-seq from multiple human tissues

scholarly article published 21 November 2016

Probable delirium is a presenting symptom of COVID-19 in frail, older adults: a cohort study of 322 hospitalised and 535 community-based older adults

scientific article published on 28 September 2020

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

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

Quantifying the degree of sharing of genetic and non-genetic causes of gene expression variability across four tissues

article

RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro

scientific article published on 03 June 2020

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

scientific article published on 25 February 2020

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

scientific article

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

scientific article published on 19 December 2017

Singapore Genome Variation Project: a haplotype map of three Southeast Asian populations

scientific article

Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

scientific article published on 20 October 2018

Tensor decomposition for multiple-tissue gene expression experiments

scientific article published on August 2016

The Genetic Architecture of Gene Expression in Peripheral Blood

scientific article published on 24 December 2016

The Genetic Architecture of Gene Expression in Peripheral Blood

scientific article published in February 2017

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study

scientific article

The fecal metabolome as a functional readout of the gut microbiome

article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The presence of methylation quantitative trait loci indicates a direct genetic influence on the level of DNA methylation in adipose tissue

scientific article

The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age

scientific article published on 06 March 2014

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

scientific article (publication date: 2013)

Time-dependent genetic effects on gene expression implicate aging processes

scientific article

Tumor necrosis factor and lymphotoxin-alpha polymorphisms and severe malaria in African populations

scientific article published on February 2009

TwinsUK: The UK Adult Twin Registry Update

scientific article published on 17 September 2019

Untangling the relationship between diet and visceral fat mass through blood metabolomics and gut microbiome profiling

scientific article

Whole genome-amplified DNA: insights and imputation

scientific article published on April 2008

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

scientific article published on 23 May 2017

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

scientific article published on 6 March 2017

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