Mark I. McCarthy

发表

Information and choice for cancer care in England.

Mark I. McCarthy, 2006 .

Erratum: A coherent approach for analysis of the Illumina HumanMethylation450 BeadChip improves data quality and performance in epigenome-wide association studies (vol 16, 37, 2015)

Weihua Zhang, James G. Scott, Mark I. McCarthy, 2016 .

Assessing association between protein truncating variants and quantitative traits

Matti Pirinen, Peter Donnelly, Mark I. McCarthy, 2013, Bioinform..

PASSIM – an open source software system for managing information in biomedical studies

Edgars Celms, Martins Opmanis, Karlis Podnieks, 2007, BMC Bioinformatics.

The impact of rare variation on gene expression across tissues

Gao Wang, Mary Goldman, Brian Craft, 2016, Nature.

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

Mark I. McCarthy, Philippe Froguel, Paul Elliott, 2011, Nature Genetics.

Supplementary Material 6

Jianxin Shi, Mark I. McCarthy, Karen L. Mohlke, 2014 .

Environmental health impact assessment : developing a quantitative model

Martin Utley, Steve Gallivan, Mark I. McCarthy, 2000 .

Using comparative data to improve services: A qualitative study of four cancer networks

Mark I. McCarthy, Susan Michie, Dawn Wilkinson, 2005 .

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

Developing health impact assessment for environmental planning

Martin Utley, Steve Gallivan, Mark I. McCarthy, 2001 .

Does body status make a difference to physical activity patterns in two age groups

L Lucas, J Paskins, J Turbin, 2003 .

A Review of Evidence Linking Ventilation Rates in Dwellings and Respiratory Health – A Focus on House Dust Mites and Mould

Tadj Oreszczyn, Dejan Mumovic, Mark I. McCarthy, 2004 .

Identical by Descent (IBD, Identity by Descent)

Steven Wiltshire, Mark I. McCarthy, 2004 .

Asthma/Dust Mite/Mould Study, Building Research Technical Report 7/2005

Ian Ridley, Dejan Mumovic, Mark I. McCarthy, 2006 .

Quantitative health impact assessments of an airport and waste incinerator: two case studies

Mark I. McCarthy, Caroline Phillips, R Barrowcliffe, 2010 .

Toppar: an interactive browser for viewing association study results

Mark I. McCarthy, Richard Mott, Thorhildur Juliusdottir, 2018, Bioinform..

A System for Information Management in BioMedical Studies—SIMBioMS

Karlis Podnieks, Andris Zarins, Mark I. McCarthy, 2009, Bioinform..

‘Asthma/Dust Mite/Mould Study’, Final Report

Ian Ridley, Tadj Oreszczyn, Dejan Mumovic, 2004 .

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

Mark I. McCarthy, Vibe Nylander, Matthias Thurner, 2019, bioRxiv.

Points: Appropriate use of local resources

Mark I. McCarthy, 1983 .

Quantitative approaches to health impact assessment

Martin Utley, Mark I. McCarthy, 2004 .

Ventilation rates and moisture-related allergens in UK dwellings

Mike E. Davies, Dejan Mumovic, Mark I. McCarthy, 2004 .

Transport and health

Mark I. McCarthy, 2009 .

Lander–Green Algorithm (L–G Algorithm)

Steven Wiltshire, Mark I. McCarthy, M. McCarthy, 2004 .

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Forecasting health impacts of policies for inequalities: a scoping study

Martin Utley, Steve Gallivan, Mark I. McCarthy, 2001 .

Identical by Descent (Identity by Descent, IBD)

Mark I. McCarthy, Steven Wiltshire, 2014 .

A Comparison of Four Outcome Measures of Terminal Care

Mark I. McCarthy, Irene J. Higginson, Angela Wade, 1988 .

SAIL—a software system for sample and phenotype availability across biobanks and cohorts

Mark I. McCarthy, Alvis Brazma, Johan Rung, 2010, Bioinform..

Assessing allele-specific expression across multiple tissues from RNA-seq read data

Matti Pirinen, Peter Donnelly, Mark I. McCarthy, 2015, Bioinform..

Mendelian Randomization Studies of the Role of Biomarkers in Type 2 Diabetes

Inês Barroso, Mark I. McCarthy, Harald Grallert, 2009 .

Cancer Networks Limited Data Set

Arturo Gonzalez-Izquierdo, Mark I. McCarthy, Bernard Rachet, 2005 .

Conceição C, Leandro A, McCarthy M. Apoio governamental à investigação em saúde pública - um perfil europeu.

Mark I. McCarthy, Cláudia Conceição, A Leandro, 2009 .

Asthma / dust mite study - Final report: sensitivity of humidity and mould growth to occupier behaviour in dwellings designed to the new air tightness requirements

Ian Ridley, Tadj Oreszczyn, Mark I. McCarthy, 2006 .

Multipoint Linkage Analysis

Steven Wiltshire, Mark I. McCarthy, M. McCarthy, 2004 .

Discovery and Refinement Supplementary

Christian Gieger, Cisca Wijmenga, Inês Barroso, 2015 .

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Matti Pirinen, Christian Gieger, Peter Donnelly, 2012 .

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

Christian Gieger, Steven Wiltshire, Andres Metspalu, 2015, PLoS genetics.

Differential methylation of the TRPA1 promoter in pain sensitivity

Chrysanthi Ainali, Frank O. Nestle, Sophia Tsoka, 2014, Nature Communications.

A Genome-Wide Metabolic QTL Analysis in Europeans Implicates Two Loci Shaped by Recent Positive Selection

Peter Donnelly, Mark I. McCarthy, Kourosh R. Ahmadi, 2011, PLoS genetics.

Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians

Wei Lu, Tien Yin Wong, Cheng Hu, 2011, Nature Genetics.

Hnf1α (MODY3) Controls Tissue-Specific Transcriptional Programs and Exerts Opposed Effects on Cell Growth in Pancreatic Islets and Liver

Enrique Blanco, Mark I. McCarthy, Miguel Pignatelli, 2009, Molecular and Cellular Biology.

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

Mark I. McCarthy, Luigi Ferrucci, Kara Stevens, 2008, PLoS genetics.

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

Jingyuan Fu, Mark I. McCarthy, Anubha Mahajan, 2019, Nature Genetics.

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Andres Metspalu, Mark I. McCarthy, Alex P. Reiner, 2014, PLoS genetics.

Expectation Maximization Algorithm (E‐M Algorithm)

Steven Wiltshire, Mark I. McCarthy, Andrew Collins, 2014 .

Type 2 diabetes and obesity: genomics and the clinic

Mark I. McCarthy, M. McCarthy, M. Travers, 2011, Human Genetics.

A Central Role for GRB10 in Regulation of Islet Function in Man

Mark I. McCarthy, Philippe Froguel, Jeffrey R. O'Connell, 2014, PLoS genetics.

Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci

Mark I. McCarthy, Andrew P. Morris, M. McCarthy, 2015, PLoS genetics.

Assessing the Combined Impact of 18 Common Genetic Variants of Modest Effect Sizes on Type 2 Diabetes Risk

Mark I. McCarthy, Andrew D. Morris, Eleftheria Zeggini, 2008, Diabetes.

Population-Specific Risk of Type 2 Diabetes Conferred by HNF4A P2 Promoter Variants

Inês Barroso, Mark I. McCarthy, Mark Walker, 2008, Diabetes.

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

Mark I. McCarthy, Deborah A. Nickerson, Xiaowu Gai, 2008, PloS one.

PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility

Mark I. McCarthy, Gregory M. Cooper, Scott M. Williams, 2015, PLoS genetics.

Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: A DIRECT study

Søren Brunak, Mark I. McCarthy, Dorret I. Boomsma, 2018, PloS one.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2020, Nature Communications.

Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations

Christian Gieger, Thomas Meitinger, Uwe Völker, 2009, PLoS genetics.

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Olli Simell, Mark I. McCarthy, Karen L. Mohlke, 2012, Nature Genetics.

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

Mark I. McCarthy, Emmanouil T. Dermitzakis, Maxime Caron, 2013, American journal of human genetics.

Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425))

Suzette J. Bielinski, Christian Gieger, Ingo Ruczinski, 2012 .

FTO genotype is associated with phenotypic variability of body mass index

Joel Eriksson, Joseph E. Powell, Andres Metspalu, 2012, Nature.

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk–associated variants

Mark I. McCarthy, Natalia Castro, Ferenc Müller, 2013, Nature Genetics.

A brief history of human disease genetics

Mark I. McCarthy, Heidi L. Rehm, Jay Shendure, 2020, Nature.

Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume (Nature Genetics (2012) 44 (539-544))

Wiro J. Niessen, Aad van der Lugt, Mark I. McCarthy, 2013 .

Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21

Matti Pirinen, Peter Donnelly, Robert Plomin, 2010, Human molecular genetics.

Type 2 Diabetes Risk Alleles Are Associated With Reduced Size at Birth

Mark I. McCarthy, Cecilia M. Lindgren, Eleftheria Zeggini, 2009, Diabetes.

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

Inês Barroso, Mark I. McCarthy, Emmanouil T. Dermitzakis, 2016, Nature Genetics.

Genome-Wide Association Studies of Obesity

Mark I. McCarthy, Cecilia M. Lindgren, M. McCarthy, 2014 .

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Mary Goldman, Brian Craft, Jingchun Zhu, 2016, Nature Communications.

Erratum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes (Nature Genetics (2011) 43 (561-564))

Mark I. McCarthy, Kourosh R. Ahmadi, Nicole Soranzo, 2011 .

Mendelian Randomization Studies Do Not Support a Role for Raised Circulating Triglyceride Levels Influencing Type 2 Diabetes, Glucose Levels, or Insulin Resistance

Mark I. McCarthy, Tom R. Gaunt, Shah Ebrahim, 2011, Diabetes.

Integrated Genetic and Epigenetic Analysis Identifies Haplotype-Specific Methylation in the FTO Type 2 Diabetes and Obesity Susceptibility Locus

Ian M. Morison, Mark I. McCarthy, Andrew E. Teschendorff, 2010, PloS one.

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

Fei Gao, Mark I. McCarthy, Jun Wang, 2014, Nature Communications.

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

Matti Pirinen, David M. Herrington, Alex Doney, 2014, Nature Communications.

Mendelian Randomization Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes

Mark I. McCarthy, Karen L. Mohlke, Florian Kronenberg, 2013, Diabetes.

A genome-wide association meta-analysis identifies new childhood obesity loci

Inês Barroso, Mark I. McCarthy, Philippe Froguel, 2012, Nature Genetics.

The Importance of Global Studies of the Genetics of Type 2 Diabetes

Mark I. McCarthy, M. McCarthy, M. McCarthy, 2011, Diabetes & metabolism journal.

Two New Loci for Body-Weight Regulation Identified in a Joint Analysis of Genome-Wide Association Studies for Early-Onset Extreme Obesity in French and German Study Groups

Raimund Erbel, Barbara Heude, Mark I. McCarthy, 2010, PLoS genetics.

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Christian Gieger, Jianxin Shi, Inês Barroso, 2013, Nature Genetics.

Early Life Factors and Blood Pressure at Age 31 Years in the 1966 Northern Finland Birth Cohort

Mark I. McCarthy, Paul Elliott, Marjo-Riitta Järvelin, 2004, Hypertension.

Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile

Mark I. McCarthy, Pauline M. Rudd, Igor Rudan, 2013, Diabetes.

A reference panel of 64,976 haplotypes for genotype imputation

Laura J. Scott, He Zhang, Gonçalo Abecasis, 2015, bioRxiv.

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

Mark I. McCarthy, Kourosh R. Ahmadi, Nicole Soranzo, 2011, Nature Genetics.

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

Sungkyoung Choi, Taesung Park, Gonçalo Abecasis, 2016, Human molecular genetics.

Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases

Laura J. Scott, Christian Gieger, Peter Kraft, 2012, PLoS genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

Epigenome-Wide Scans Identify Differentially Methylated Regions for Age and Age-Related Phenotypes in a Healthy Ageing Population

Robin M. Murray, Mark I. McCarthy, Emmanouil T. Dermitzakis, 2012, PLoS genetics.

Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors

Mark I. McCarthy, Barbara E. Stranger, Emmanouil T. Dermitzakis, 2015, PLoS genetics.

Variation in the Glucose Transporter gene SLC2A2 is associated with glycaemic response to metformin

Mark I. McCarthy, Alison A. Motsinger-Reif, John S. Witte, 2016, Nature Genetics.

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

Inês Barroso, Mark I. McCarthy, Bengt Sennblad, 2011, Diabetes.

Distinct variants at LIN28B influence growth in height from birth to adulthood.

Mark I. McCarthy, Clive Osmond, Leena Peltonen, 2010, American journal of human genetics.

Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Andrew B. Nobel, Fred A. Wright, Ivan Rusyn, 2015, Scientific Reports.

Expression of Phosphofructokinase in Skeletal Muscle Is Influenced by Genetic Variation and Associated With Insulin Sensitivity

Mark I. McCarthy, Emmanouil T. Dermitzakis, Paul W. Franks, 2014, Diabetes.

1B-5 Exploring the developmental overnutrition hypothesis using parental offspring associations and the FTO gene as an instrumental variable for maternal adiposity. The Avon Longitudinal Study of Parents And Children (ALSPAC)

Mark I. McCarthy, N J Timpson, Andy R Ness, 2007 .

Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile

Mark I. McCarthy, Pauline M. Rudd, Igor Rudan, 2013, Diabetes.

The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

Christian Gieger, Andres Metspalu, Mark I. McCarthy, 2013, BDJ.

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease

He Zhang, Thomas Meitinger, Raimund Erbel, 2017, Journal of the American College of Cardiology.

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

Nicola L. Beer, Pablo Cingolani, Mark I. McCarthy, 2015, PLoS genetics.

Editorial: Genome-wide association studies: Past, present and future

Mark I. McCarthy, Joel N. Hirschhorn, M. McCarthy, 2008 .

Endocrine-Exocrine Signaling Drives Obesity-Associated Pancreatic Ductal Adenocarcinoma

Albert C. Koong, Mark I. McCarthy, Vibe Nylander, 2019, Cell.

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Xiaofeng Zhu, Vladan Mijatovic, Inês Barroso, 2016, Nature Genetics.

Genome-Wide Association Study Reveals Multiple Loci Associated with Primary Tooth Development during Infancy

Mark I. McCarthy, David Blane, Kirsi Sipilä, 2010, PLoS genetics.

Impact of Type 2 Diabetes Susceptibility Variants on Quantitative Glycemic Traits Reveals Mechanistic Heterogeneity

Inês Barroso, Xia Yang, Mark I. McCarthy, 2014, Diabetes.

The South Asian Genome

Mark I. McCarthy, Richard D. Pearson, Jun Wang, 2014, PloS one.

Genetic Determinants of Height Growth Assessed Longitudinally from Infancy to Adulthood in the Northern Finland Birth Cohort 1966

Mark I. McCarthy, Leena Peltonen, Ioanna Tzoulaki, 2009, PLoS genetics.

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Peter Donnelly, Mark I. McCarthy, Nazneen Rahman, 2012, Nature.