← M. McCarthy

Papers by M. McCarthy

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151. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statisticsNature Communications · 2018
152. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 DiabetesDiabetes · 2018
153. NKX6.1 induced pluripotent stem cell reporter lines for isolation and analysis of functionally relevant neuronal and pancreas populationsStem Cell Research · 2018
154. Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predispositionDiabetologia · 2018
155. Maturity onset diabetes of the young due to HNF1A variants in CroatiaBiochemia Medica · 2018
156. Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria2018
157. Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inferenceNature Communications · 2018
158. Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility locieLife · 2018
159. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levelsNature Communications · 2018
160. Toppar: an interactive browser for viewing association study resultsBioinformatics · 2018
161. Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal geneticsHuman Molecular Genetics · 2018
162. Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profilingDevelopment · 2018
163. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigreesProceedings of the National Academy of Sciences · 2017
164. Metabolite ratios as potential biomarkers for type 2 diabetes: a DIRECT studyDiabetologia · 2017
165. Bone mineral density and risk of type 2 diabetes and coronary heart disease: A Mendelian randomization studyWellcome Open Research · 2017
166. Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolutionHuman Molecular Genetics · 2017
167. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitnessNature Communications · 2017
168. Characterising cis -regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissuesGut · 2017
169. Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity2017
170. Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric TraitsThe American Journal of Human Genetics · 2017
171. A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes VariantsDiabetes · 2017
172. Sonic methods for measuring crystal orientation fabric in ice, and results from the West Antarctic ice sheet (WAIS) DivideJournal of Glaciology · 2017
173. Causal analyses, statistical efficiency and phenotypic precision through Recall-by-Genotype study design2017
174. How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?Current Diabetes Reports · 2017
175. Painting a new picture of personalised medicine for diabetesDiabetologia · 2017
176. Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery DiseaseJournal of the American College of Cardiology · 2017
177. Human disease genomics: from variants to biologyGenome biology · 2017
178. Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and MiceThe American Journal of Human Genetics · 2017
179. Investigating energetic electron precipitation through combining ground‐based and balloon observationsJournal of Geophysical Research Space Physics · 2017
180. Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation AnalysisPLoS Medicine · 2016
181. Detection of human adaptation during the past 2000 yearsScience · 2016
182. Higher chylomicron remnants and LDL particle numbers associate with CD36 SNPs and DNA methylation sites that reduce CD36Journal of Lipid Research · 2016
183. Exposing the exposures responsible for type 2 diabetes and obesityScience · 2016
184. Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 DiabetesJAMA · 2016
185. The Genetic Landscape of Renal Complications in Type 1 DiabetesJournal of the American Society of Nephrology · 2016
186. Burden of Diabetes and First Evidence for the Utility of HbA1c for Diagnosis and Detection of Diabetes in Urban Black South Africans: The Durban Diabetes StudyPLoS ONE · 2016
187. Multicentre observational study of surgical system failures in aortic procedures and their effect on patient outcomesBritish journal of surgery · 2016
188. Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk VariantsDiabetes · 2016
189. The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic DiabetesDiabetes · 2016
190. Analysis of protein-coding genetic variation in 60,706 humansNature · 2016
191. A Protein Domain and Family Based Approach to Rare Variant Association AnalysisPLoS ONE · 2016
192. Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas modelIslets · 2016
193. Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie BiobankDiabetologia · 2016
194. Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth WeightJAMA · 2016
195. Sequencing of Candidate Genes Selected by Beta Cell Experts in Monogenic Diabetes of Unknown Aetiology2016
196. Trans-ethnic study design approaches for fine-mappingEuropean Journal of Human Genetics · 2016
197. H3Africa multi-centre study of the prevalence and environmental and genetic determinants of type 2 diabetes in sub-Saharan Africa: study protocolGlobal Health · 2016
198. Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics2015
199. Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream EffectorsPLoS Genetics · 2015
200. Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variationGenome biology · 2015