Author: Mark I. McCarthy
- ORCiD: http://orcid.org/0000-0002-4393-0510
- Most recently observed institution: Wellcome Centre for Human Genetics, University of Oxford
Rankings
- All-time downloads: 80,278 (rank: 1,604 )
- Categories:
- bioinformatics: 3,846 (rank: 2,993 (tie) )
- cancer biology: 828 (rank: 8,548 (tie) )
- endocrinology: 698 (rank: 120 )
- epidemiology: 621 (rank: 11,064 (tie) )
- genetic and genomic medicine: 3,892 (rank: 136 )
- genetics: 37,394 (rank: 131 )
- genomics: 32,999 (rank: 252 )
Downloads per author, site-wide
Preprints
Analysis of protein-coding genetic variation in 60,706 humans
genomics more details view paper- Downloaded 21,925 times
- Download rankings, all-time:
- Site-wide: 278
- In genomics: 11
- Year to date:
- Site-wide: 30,709
- Since beginning of last month:
- Site-wide: 31,932
Detection of human adaptation during the past 2,000 years
genetics more details view paper- Downloaded 16,460 times
- Download rankings, all-time:
- Site-wide: 374
- In genetics: 10
- Year to date:
- Site-wide: 66,346
- Since beginning of last month:
- Site-wide: 30,404
Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
genomics more details view paper- Downloaded 3,212 times
- Download rankings, all-time:
- Site-wide: 3,325
- In genomics: 392
- Year to date:
- Site-wide: 64,444
- Since beginning of last month:
- Site-wide: 93,113
Genome-wide association study identifies 48 common genetic variants associated with handedness
genetics more details view paper- Downloaded 2,476 times
- Download rankings, all-time:
- Site-wide: 4,820
- In genetics: 233
- Year to date:
- Site-wide: 18,574
- Since beginning of last month:
- Site-wide: 15,714
Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes
genetics more details view paper- Downloaded 1,842 times
- Download rankings, all-time:
- Site-wide: 7,461
- In genetics: 370
- Year to date:
- Site-wide: 27,085
- Since beginning of last month:
- Site-wide: 101,435
Identification of type 2 diabetes loci in 433,540 East Asian individuals
genetics more details view paper- Downloaded 1,756 times
- Download rankings, all-time:
- Site-wide: 7,995
- In genetics: 401
- Year to date:
- Site-wide: 19,873
- Since beginning of last month:
- Site-wide: 31,757
An Effector Index to Predict Causal Genes at GWAS Loci
bioinformatics more details view paper- Downloaded 1,739 times
- Download rankings, all-time:
- Site-wide: 8,130
- In bioinformatics: 1,019
- Year to date:
- Site-wide: 16,382
- Since beginning of last month:
- Site-wide: 9,321
Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries
genetics more details view paper- Downloaded 1,629 times
- Download rankings, all-time:
- Site-wide: 9,008
- In genetics: 458
- Year to date:
- Site-wide: 59,075
- Since beginning of last month:
- Site-wide: 70,183
PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION
genetics more details view paper- Downloaded 1,627 times
- Download rankings, all-time:
- Site-wide: 9,030
- In genetics: 459
- Year to date:
- Site-wide: 81,743
- Since beginning of last month:
- Site-wide: 38,033
Improving reporting standards for polygenic scores in risk prediction studies
genetic and genomic medicine more details view paper- Downloaded 1,606 times
- Download rankings, all-time:
- Site-wide: 9,218
- In genetic and genomic medicine: 27
- Year to date:
- Site-wide: 3,885
- Since beginning of last month:
- Site-wide: 5,351
Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes
genomics more details view paper- Downloaded 1,522 times
- Download rankings, all-time:
- Site-wide: 9,966
- In genomics: 1,130
- Year to date:
- Site-wide: 22,081
- Since beginning of last month:
- Site-wide: 58,222
Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes
genomics more details view paper- Downloaded 1,431 times
- Download rankings, all-time:
- Site-wide: 10,903
- In genomics: 1,231
- Year to date:
- Site-wide: 78,983
- Since beginning of last month:
- Site-wide: 102,201
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
genetics more details view paper- Downloaded 1,392 times
- Download rankings, all-time:
- Site-wide: 11,382
- In genetics: 582
- Year to date:
- Site-wide: 85,846
- Since beginning of last month:
- Site-wide: 61,479
Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data
bioinformatics more details view paper- Downloaded 1,384 times
- Download rankings, all-time:
- Site-wide: 11,475
- In bioinformatics: 1,445
- Year to date:
- Site-wide: 85,212
- Since beginning of last month:
- Site-wide: 92,514
Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility
genomics more details view paper- Downloaded 1,224 times
- Download rankings, all-time:
- Site-wide: 13,813
- In genomics: 1,495
- Year to date:
- Site-wide: 67,635
- Since beginning of last month:
- Site-wide: 97,798
Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics
genetics more details view paper- Downloaded 1,176 times
- Download rankings, all-time:
- Site-wide: 14,636
- In genetics: 762
- Year to date:
- Site-wide: 100,525
- Since beginning of last month:
- Site-wide: 79,522
Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people.
genomics more details view paper- Downloaded 1,152 times
- Download rankings, all-time:
- Site-wide: 15,095
- In genomics: 1,628
- Year to date:
- Site-wide: 20,593
- Since beginning of last month:
- Site-wide: 26,982
Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen
genetics more details view paper- Downloaded 1,152 times
- Download rankings, all-time:
- Site-wide: 15,092
- In genetics: 780
- Year to date:
- Site-wide: 87,096
- Since beginning of last month:
- Site-wide: 72,823
Narrow-sense heritability estimation of complex traits using identity-by-descent information.
genetics more details view paper- Downloaded 1,112 times
- Download rankings, all-time:
- Site-wide: 15,954
- In genetics: 823
- Year to date:
- Site-wide: 71,841
- Since beginning of last month:
- Site-wide: 69,447
A multi-omic integrative scheme characterizes tissues of action at loci associated with type 2 diabetes
genetics more details view paper- Downloaded 1,016 times
- Download rankings, all-time:
- Site-wide: 18,297
- In genetics: 929
- Year to date:
- Site-wide: 43,688
- Since beginning of last month:
- Site-wide: 38,837
Loss of ZnT8 function protects against diabetes by enhanced insulin secretion
genetics more details view paper- Downloaded 1,006 times
- Download rankings, all-time:
- Site-wide: 18,571
- In genetics: 940
- Year to date:
- Site-wide: 48,271
- Since beginning of last month:
- Site-wide: 44,830
Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci
genomics more details view paper- Downloaded 990 times
- Download rankings, all-time:
- Site-wide: 19,022
- In genomics: 1,976
- Year to date:
- Site-wide: 64,691
- Since beginning of last month:
- Site-wide: 104,338
Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
genetic and genomic medicine more details view paper- Downloaded 914 times
- Download rankings, all-time:
- Site-wide: 21,326
- In genetic and genomic medicine: 61
- Year to date:
- Site-wide: 3,630
- Since beginning of last month:
- Site-wide: 5,830
Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma
cancer biology more details view paper- Downloaded 828 times
- Download rankings, all-time:
- Site-wide: 24,557
- In cancer biology: 617
- Year to date:
- Site-wide: 73,524
- Since beginning of last month:
- Site-wide: 39,951
A general framework for predicting the transcriptomic consequences of non-coding variation
genetics more details view paper- Downloaded 801 times
- Download rankings, all-time:
- Site-wide: 25,697
- In genetics: 1,291
- Year to date:
- Site-wide: 47,371
- Since beginning of last month:
- Site-wide: 95,659
Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation
genetics more details view paper- Downloaded 764 times
- Download rankings, all-time:
- Site-wide: 27,421
- In genetics: 1,385
- Year to date:
- Site-wide: 28,732
- Since beginning of last month:
- Site-wide: 24,384
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
genetic and genomic medicine more details view paper- Downloaded 743 times
- Download rankings, all-time:
- Site-wide: 28,555
- In genetic and genomic medicine: 76
- Year to date:
- Site-wide: 14,908
- Since beginning of last month:
- Site-wide: 17,018
Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals
bioinformatics more details view paper- Downloaded 723 times
- Download rankings, all-time:
- Site-wide: 29,654
- In bioinformatics: 3,429
- Year to date:
- Site-wide: 96,828
- Since beginning of last month:
- Site-wide: 114,287
A multi-tissue transcriptome analysis of human metabolites guides the interpretability of associations based on multi-SNP models for gene expression
genomics more details view paper- Downloaded 700 times
- Download rankings, all-time:
- Site-wide: 30,928
- In genomics: 2,797
- Year to date:
- Site-wide: 108,204
- Since beginning of last month:
- Site-wide: 82,287
The Trans-Ancestral Genomic Architecture of Glycaemic Traits
genetics more details view paper- Downloaded 665 times
- Download rankings, all-time:
- Site-wide: 33,163
- In genetics: 1,653
- Year to date:
- Site-wide: 11,148
- Since beginning of last month:
- Site-wide: 11,284
Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk
genetics more details view paper- Downloaded 664 times
- Download rankings, all-time:
- Site-wide: 33,232
- In genetics: 1,659
- Year to date:
- Site-wide: 54,081
- Since beginning of last month:
- Site-wide: 40,536
Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity
genomics more details view paper- Downloaded 616 times
- Download rankings, all-time:
- Site-wide: 36,662
- In genomics: 3,159
- Year to date:
- Site-wide: 58,707
- Since beginning of last month:
- Site-wide: 92,231
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration
genetics more details view paper- Downloaded 502 times
- Download rankings, all-time:
- Site-wide: 47,189
- In genetics: 2,280
- Year to date:
- Site-wide: 85,576
- Since beginning of last month:
- Site-wide: 113,455
Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation
endocrinology more details view paper- Downloaded 499 times
- Download rankings, all-time:
- Site-wide: 47,474
- In endocrinology: 22
- Year to date:
- Site-wide: 23,631
- Since beginning of last month:
- Site-wide: 41,078
Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes
genetics more details view paper- Downloaded 485 times
- Download rankings, all-time:
- Site-wide: 49,024
- In genetics: 2,376
- Year to date:
- Site-wide: 1,081
- Since beginning of last month:
- Site-wide: 1,392
Predicting and elucidating the etiology of fatty liver disease using a machine learning-based approach: an IMI DIRECT study
genetic and genomic medicine more details view paper- Downloaded 391 times
- Download rankings, all-time:
- Site-wide: 61,596
- In genetic and genomic medicine: 172
- Year to date:
- Site-wide: 73,055
- Since beginning of last month:
- Site-wide: 36,441
Variation in the plasma membrane monoamine transporter (PMAT, encoded in SLC29A4) and organic cation transporter 1 (OCT1, encoded in SLC22A1) and gastrointestinal intolerance to metformin in type 2 diabetes: an IMI DIRECT study
genetics more details view paper- Downloaded 386 times
- Download rankings, all-time:
- Site-wide: 62,446
- In genetics: 2,978
- Year to date:
- Site-wide: 60,231
- Since beginning of last month:
- Site-wide: 49,741
Analysis of overlapping genetic association in type 1 and type 2 diabetes
genetics more details view paper- Downloaded 340 times
- Download rankings, all-time:
- Site-wide: 69,961
- In genetics: 3,306
- Year to date:
- Site-wide: 4,382
- Since beginning of last month:
- Site-wide: 16,767
Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium
epidemiology more details view paper- Downloaded 320 times
- Download rankings, all-time:
- Site-wide: 73,587
- In epidemiology: 3,002
- Year to date:
- Site-wide: 111,560
- Since beginning of last month:
- Site-wide: 117,752
Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a Mendelian randomization analysis using outcomes in first-degree relatives
epidemiology more details view paper- Downloaded 301 times
- Download rankings, all-time:
- Site-wide: 77,070
- In epidemiology: 3,125
- Year to date:
- Site-wide: 40,207
- Since beginning of last month:
- Site-wide: 21,038
Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program
genetic and genomic medicine more details view paper- Downloaded 238 times
- Download rankings, all-time:
- Site-wide: 89,916
- In genetic and genomic medicine: 297
- Year to date:
- Site-wide: 16,090
- Since beginning of last month:
- Site-wide: 8,988
Multifaceted genome-wide study identifies novel regulatory loci for body mass index in Indians
genomics more details view paper- Downloaded 227 times
- Download rankings, all-time:
- Site-wide: 92,482
- In genomics: 5,688
- Year to date:
- Site-wide: 78,694
- Since beginning of last month:
- Site-wide: 105,525
Aetiological differences between novel subtypes of diabetes derived from genetic associations
endocrinology more details view paper- Downloaded 199 times
- Download rankings, all-time:
- Site-wide: 98,349
- In endocrinology: 67
- Year to date:
- Site-wide: 16,812
- Since beginning of last month:
- Site-wide: 27,338
Common maternal and fetal genetic variants show expected polygenic effects on the probability of being born small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies
genetics more details view paper- Downloaded 143 times
- Download rankings, all-time:
- Site-wide: 109,401
- In genetics: 4,858
- Year to date:
- Site-wide: 87,134
- Since beginning of last month:
- Site-wide: 61,374
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