Author details

Full Name

Mark I McCarthy

Affiliation

ORCID

Career Start Year

1988

Papers

688

H Index

166

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37034649	Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.	medRxiv	2023
36343773	A genome-wide association study of chronic spontaneous urticaria risk and heterogeneity.	J Allergy Clin Immunol	2023
37585454	Multi-ancestry GWAS analysis identifies two novel loci associated with diabetic eye disease and highlights APOL1 as a high risk locus in patients with diabetic macular edema.	PLoS Genet	2023
37736013	Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells.		2023
37787550	Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.		2023
37344884	Whole genome sequencing across clinical trials identifies rare coding variants in GPR68 associated with chemotherapy-induced peripheral neuropathy.	Genome Med	2023
37090505	Type 2 Diabetes risk alleles in Peptidyl-glycine Alpha-amidating Monooxygenase influence GLP-1 levels and response to GLP-1 Receptor Agonists.		2023
36895957	Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.	Brain Commun	2023
37130959	Author Correction: Discovery of drug-omics associations in type 2 diabetes with generative deep-learning models.	Nat Biotechnol	2023
37012456	Genetic effects on the timing of parturition and links to fetal birth weight.	Nat Genet	2023
36862161	The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population.		2023
36603154	Identification of a Genetic Susceptibility Locus for Idiopathic Pulmonary Fibrosis in the 16p Subtelomere Using Whole-Genome Sequencing.	Am J Respir Crit Care Med	2023
35220425	Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes.	Hum Mol Genet	2022
35763030	Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.	Diabetologia	2022
35368043	A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk.	Sci Rep	2022
36333282	The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.	Nature Communications	2022
35551307	Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.	Nat Genet	2022
35421386	Evaluating human genetic support for hypothesized metabolic disease genes.		2022
35147782	An effector index to predict target genes at GWAS loci.	Hum Genet	2022
35015074	Polygenic Prediction of Type 2 Diabetes in Africa.	Diabetes Care	2022
35106505	Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study.	Cell Rep Med	2022
34875679	Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.	Journal of Clinical Endocrinology and Metabolism	2022
35220425	Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes.	Hum Mol Genet	2022
34729547	Effects of apolipoprotein B on lifespan and risks of major diseases including type 2 diabetes: a mendelian randomisation analysis using outcomes in first-degree relatives.	Lancet Healthy Longev	2021
34233929	Profiles of Glucose Metabolism in Different Prediabetes Phenotypes, Classified by Fasting Glycemia, 2-Hour OGTT, Glycated Hemoglobin, and 1-Hour OGTT: An IMI DIRECT Study.	Diabetes	2021
34108472	Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.	Nat Commun	2021
33727701	Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.	Nat Genet	2021
33830302	Analysis of overlapping genetic association in type 1 and type 2 diabetes.	Diabetologia	2021
34028093	HIV infection and anaemia do not affect HbA for the detection of diabetes in black South Africans: Evidence from the Durban Diabetes Study.	Diabetic Medicine	2021
33499903	Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.	Genome Biol	2021
32860016	Genetics meets proteomics: perspectives for large population-based studies.	Nat Rev Genet	2021
33067862	Clinical profiles of post-load glucose subgroups and their association with glycaemic traits over time: An IMI-DIRECT study.	Diabetic Medicine	2021
33402679	Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.	Nat Commun	2021
34854908	Association of Genetic Variant at Chromosome 12q23.1 With Neuropathic Pain Susceptibility.	JAMA Netw Open	2021
31504546	Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people.	Int J Epidemiol	2020
32304665	Endocrine-Exocrine Signaling Drives Obesity-Associated Pancreatic Ductal Adenocarcinoma.	Cell	2020
31883919	Analysis of Differentiation Protocols Defines a Common Pancreatic Progenitor Molecular Signature and Guides Refinement of Endocrine Differentiation.	Stem Cell Reports	2020
32395877	Altered cortisol metabolism in individuals with HNF1A-MODY.	Clinical Endocrinology	2020
31985400	Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals.	eLife	2020
31866443	Glutamine Links Obesity to Inflammation in Human White Adipose Tissue.	Cell Metab	2020
31978332	A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression.	American Journal of Human Genetics	2020
32493999	RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro.	Nat Commun	2020
32383070	Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood.	Eur J Epidemiol	2020
31915397	A brief history of human disease genetics.	Nature	2020
32826294	Large-Scale Analyses Provide No Evidence for Gene-Gene Interactions Influencing Type 2 Diabetes Risk.		2020
33253307	Post-load glucose subgroups and associated metabolic traits in individuals with type 2 diabetes: An IMI-DIRECT study.	PLoS One	2020
33188205	Genome-wide association analysis of type 2 diabetes in the EPIC-InterAct study.	Sci Data	2020
33186544	A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes.	Am J Hum Genet	2020
32910913	Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.	Am J Hum Genet	2020
32561617	Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).	Diabetes Care	2020