Lista de obras - Kerrin S. Small - Dominio Público Uruguay

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

A genotype calling algorithm for the Illumina BeadArray platform

artículo científico publicado en 2007

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

artículo científico publicado en 2007

A novel method for haplotype clustering and visualization

artículo científico publicado en 2010

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Assessing genuine parents-offspring trios for genetic association studies

artículo científico publicado en 2008

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2021

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

artículo científico publicado en 2020

Detecting and characterizing genomic signatures of positive selection in global populations

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Extreme genomic variation in a natural population

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Genetic interactions affecting human gene expression identified by variance association mapping

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

artículo científico publicado en 2011

Genome-wide comparisons of variation in linkage disequilibrium

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Human metabolic individuality in biomedical and pharmaceutical research

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Methodological challenges of genome-wide association analysis in Africa ⬇️

artículo científico publicado en 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

artículo científico publicado en 2012

Nuclear genetic regulation of the human mitochondrial transcriptome

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Power consequences of linkage disequilibrium variation between populations

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Tensor decomposition for multiple-tissue gene expression experiments

artículo científico publicado en 2016

The Genetic Architecture of Gene Expression in Peripheral Blood

artículo científico publicado en 2016

The Genetic Architecture of Gene Expression in Peripheral Blood

artículo científico publicado en 2017

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

artículo científico publicado en 2011

The fecal metabolome as a functional readout of the gut microbiome

article

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Time-dependent genetic effects on gene expression implicate aging processes

artículo científico publicado en 2017

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

artículo científico publicado en 2009

TwinsUK: The UK Adult Twin Registry Update

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Whole genome-amplified DNA: insights and imputation

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Lista de obras de Kerrin S. Small

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

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

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

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

A genotype calling algorithm for the Illumina BeadArray platform

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

A novel method for haplotype clustering and visualization

A reference panel of 64,976 haplotypes for genotype imputation

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

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

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

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

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

Assessing genuine parents-offspring trios for genetic association studies

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

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

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

Chaining Algorithms for Alignment of Draft Sequence

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

Concordance for clonal hematopoiesis is limited in elderly twins

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

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

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

Detecting and characterizing genomic signatures of positive selection in global populations

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

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

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

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

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

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

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

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

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

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

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

Extreme genomic variation in a natural population

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

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

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

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

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

Genetic interactions affecting human gene expression identified by variance association mapping

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

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

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

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

Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

Genome-wide comparisons of variation in linkage disequilibrium

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

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

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

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

Human metabolic individuality in biomedical and pharmaceutical research

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

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

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

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

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

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

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

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

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

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

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

Methodological challenges of genome-wide association analysis in Africa ⬇️

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

Nuclear genetic regulation of the human mitochondrial transcriptome

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

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

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

Power consequences of linkage disequilibrium variation between populations

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

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

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

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

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

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

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