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: 81,078 (rank: 1,653 )
- Categories:
- bioinformatics: 3,831 (rank: 3,073 )
- cancer biology: 858 (rank: 8,623 (tie) )
- endocrinology: 722 (rank: 126 )
- epidemiology: 653 (rank: 11,311 (tie) )
- genetic and genomic medicine: 4,182 (rank: 143 )
- genetics: 37,738 (rank: 124 )
- genomics: 33,094 (rank: 256 )
Downloads per author, site-wide
Preprints
Analysis of protein-coding genetic variation in 60,706 humans
genomics more details view paper- Downloaded 21,936 times
- Download rankings, all-time:
- Site-wide: 291
- In genomics: 11
- Year to date:
- Site-wide: 45,529
- Since beginning of last month:
- Site-wide: 45,529
Detection of human adaptation during the past 2,000 years
genetics more details view paper- Downloaded 16,500 times
- Download rankings, all-time:
- Site-wide: 398
- In genetics: 10
- Year to date:
- Site-wide: 25,271
- Since beginning of last month:
- Site-wide: 25,271
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 3,223 times
- Download rankings, all-time:
- Site-wide: 3,486
- In genomics: 397
- Year to date:
- Site-wide: 62,662
- Since beginning of last month:
- Site-wide: 62,662
Genome-wide association study identifies 48 common genetic variants associated with handedness
genetics more details view paper- Downloaded 2,526 times
- Download rankings, all-time:
- Site-wide: 4,908
- In genetics: 229
- Year to date:
- Site-wide: 15,425
- Since beginning of last month:
- Site-wide: 15,425
Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes
genetics more details view paper- Downloaded 1,826 times
- Download rankings, all-time:
- Site-wide: 7,927
- In genetics: 385
- Year to date:
- Site-wide: None
- Since beginning of last month:
- Site-wide: None
Identification of type 2 diabetes loci in 433,540 East Asian individuals
genetics more details view paper- Downloaded 1,777 times
- Download rankings, all-time:
- Site-wide: 8,274
- In genetics: 403
- Year to date:
- Site-wide: 27,690
- Since beginning of last month:
- Site-wide: 27,690
Improving reporting standards for polygenic scores in risk prediction studies
genetic and genomic medicine more details view paper- Downloaded 1,768 times
- Download rankings, all-time:
- Site-wide: 8,345
- In genetic and genomic medicine: 24
- Year to date:
- Site-wide: 3,148
- Since beginning of last month:
- Site-wide: 3,148
An Effector Index to Predict Causal Genes at GWAS Loci
bioinformatics more details view paper- Downloaded 1,713 times
- Download rankings, all-time:
- Site-wide: 8,763
- In bioinformatics: 1,073
- Year to date:
- Site-wide: None
- Since beginning of last month:
- Site-wide: None
PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION
genetics more details view paper- Downloaded 1,637 times
- Download rankings, all-time:
- Site-wide: 9,403
- In genetics: 462
- Year to date:
- Site-wide: 72,874
- Since beginning of last month:
- Site-wide: 72,874
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 1,637 times
- Download rankings, all-time:
- Site-wide: 9,404
- In genetics: 463
- Year to date:
- Site-wide: 70,083
- Since beginning of last month:
- Site-wide: 70,083
Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes
genomics more details view paper- Downloaded 1,532 times
- Download rankings, all-time:
- Site-wide: 10,334
- In genomics: 1,153
- Year to date:
- Site-wide: 39,124
- Since beginning of last month:
- Site-wide: 39,124
Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes
genomics more details view paper- Downloaded 1,447 times
- Download rankings, all-time:
- Site-wide: 11,244
- In genomics: 1,252
- Year to date:
- Site-wide: 54,397
- Since beginning of last month:
- Site-wide: 54,397
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
genetics more details view paper- Downloaded 1,401 times
- Download rankings, all-time:
- Site-wide: 11,797
- In genetics: 593
- Year to date:
- Site-wide: 82,285
- Since beginning of last month:
- Site-wide: 82,285
Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data
bioinformatics more details view paper- Downloaded 1,393 times
- Download rankings, all-time:
- Site-wide: 11,898
- In bioinformatics: 1,473
- Year to date:
- Site-wide: 78,581
- Since beginning of last month:
- Site-wide: 78,581
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 1,236 times
- Download rankings, all-time:
- Site-wide: 14,234
- In genomics: 1,515
- Year to date:
- Site-wide: 63,405
- Since beginning of last month:
- Site-wide: 63,405
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 1,193 times
- Download rankings, all-time:
- Site-wide: 15,031
- In genetics: 773
- Year to date:
- Site-wide: 58,421
- Since beginning of last month:
- Site-wide: 58,421
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 1,162 times
- Download rankings, all-time:
- Site-wide: 15,651
- In genomics: 1,654
- Year to date:
- Site-wide: 38,301
- Since beginning of last month:
- Site-wide: 38,301
Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen
genetics more details view paper- Downloaded 1,160 times
- Download rankings, all-time:
- Site-wide: 15,670
- In genetics: 801
- Year to date:
- Site-wide: 85,564
- Since beginning of last month:
- Site-wide: 85,564
Narrow-sense heritability estimation of complex traits using identity-by-descent information.
genetics more details view paper- Downloaded 1,122 times
- Download rankings, all-time:
- Site-wide: 16,498
- In genetics: 835
- Year to date:
- Site-wide: 71,193
- Since beginning of last month:
- Site-wide: 71,193
A multi-omic integrative scheme characterizes tissues of action at loci associated with type 2 diabetes
genetics more details view paper- Downloaded 1,050 times
- Download rankings, all-time:
- Site-wide: 18,199
- In genetics: 914
- Year to date:
- Site-wide: 26,314
- Since beginning of last month:
- Site-wide: 26,314
Loss of ZnT8 function protects against diabetes by enhanced insulin secretion
genetics more details view paper- Downloaded 1,013 times
- Download rankings, all-time:
- Site-wide: 19,238
- In genetics: 960
- Year to date:
- Site-wide: 66,468
- Since beginning of last month:
- Site-wide: 66,468
Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci
genomics more details view paper- Downloaded 1,001 times
- Download rankings, all-time:
- Site-wide: 19,599
- In genomics: 2,001
- Year to date:
- Site-wide: 62,571
- Since beginning of last month:
- Site-wide: 62,571
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 980 times
- Download rankings, all-time:
- Site-wide: 20,126
- In genetic and genomic medicine: 60
- Year to date:
- Site-wide: 6,106
- Since beginning of last month:
- Site-wide: 6,106
Endocrine-exocrine signaling drives obesity-associated pancreatic ductal adenocarcinoma
cancer biology more details view paper- Downloaded 858 times
- Download rankings, all-time:
- Site-wide: 24,411
- In cancer biology: 611
- Year to date:
- Site-wide: 32,715
- Since beginning of last month:
- Site-wide: 32,715
A general framework for predicting the transcriptomic consequences of non-coding variation
genetics more details view paper- Downloaded 802 times
- Download rankings, all-time:
- Site-wide: 26,769
- In genetics: 1,340
- Year to date:
- Site-wide: 91,079
- Since beginning of last month:
- Site-wide: 91,079
Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation
genetics more details view paper- Downloaded 794 times
- Download rankings, all-time:
- Site-wide: 27,144
- In genetics: 1,353
- Year to date:
- Site-wide: 26,423
- Since beginning of last month:
- Site-wide: 26,423
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
genetic and genomic medicine more details view paper- Downloaded 765 times
- Download rankings, all-time:
- Site-wide: 28,588
- In genetic and genomic medicine: 82
- Year to date:
- Site-wide: 23,502
- Since beginning of last month:
- Site-wide: 23,502
Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals
bioinformatics more details view paper- Downloaded 725 times
- Download rankings, all-time:
- Site-wide: 30,868
- In bioinformatics: 3,511
- Year to date:
- Site-wide: 117,872
- Since beginning of last month:
- Site-wide: 117,872
The Trans-Ancestral Genomic Architecture of Glycaemic Traits
genetics more details view paper- Downloaded 711 times
- Download rankings, all-time:
- Site-wide: 31,717
- In genetics: 1,576
- Year to date:
- Site-wide: 13,701
- Since beginning of last month:
- Site-wide: 13,701
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 703 times
- Download rankings, all-time:
- Site-wide: 32,127
- In genomics: 2,877
- Year to date:
- Site-wide: 117,670
- Since beginning of last month:
- Site-wide: 117,670
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 679 times
- Download rankings, all-time:
- Site-wide: 33,731
- In genetics: 1,665
- Year to date:
- Site-wide: 51,742
- Since beginning of last month:
- Site-wide: 51,742
Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity
genomics more details view paper- Downloaded 622 times
- Download rankings, all-time:
- Site-wide: 37,843
- In genomics: 3,234
- Year to date:
- Site-wide: 78,125
- Since beginning of last month:
- Site-wide: 78,125
Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation
endocrinology more details view paper- Downloaded 508 times
- Download rankings, all-time:
- Site-wide: 48,431
- In endocrinology: 23
- Year to date:
- Site-wide: 42,258
- Since beginning of last month:
- Site-wide: 42,258
Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration
genetics more details view paper- Downloaded 506 times
- Download rankings, all-time:
- Site-wide: 48,735
- In genetics: 2,334
- Year to date:
- Site-wide: 98,016
- Since beginning of last month:
- Site-wide: 98,016
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 504 times
- Download rankings, all-time:
- Site-wide: 49,020
- In genetics: 2,351
- Year to date:
- Site-wide: 3,418
- Since beginning of last month:
- Site-wide: 3,418
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 398 times
- Download rankings, all-time:
- Site-wide: 63,137
- In genetic and genomic medicine: 187
- Year to date:
- Site-wide: 79,802
- Since beginning of last month:
- Site-wide: 79,802
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 392 times
- Download rankings, all-time:
- Site-wide: 63,927
- In genetics: 3,012
- Year to date:
- Site-wide: 82,365
- Since beginning of last month:
- Site-wide: 82,365
Analysis of overlapping genetic association in type 1 and type 2 diabetes
genetics more details view paper- Downloaded 364 times
- Download rankings, all-time:
- Site-wide: 68,531
- In genetics: 3,208
- Year to date:
- Site-wide: 10,674
- Since beginning of last month:
- Site-wide: 10,674
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 332 times
- Download rankings, all-time:
- Site-wide: 74,022
- In epidemiology: 3,060
- Year to date:
- Site-wide: 78,217
- Since beginning of last month:
- Site-wide: 78,217
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 321 times
- Download rankings, all-time:
- Site-wide: 76,160
- In epidemiology: 3,128
- Year to date:
- Site-wide: 37,702
- Since beginning of last month:
- Site-wide: 37,702
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 271 times
- Download rankings, all-time:
- Site-wide: 86,180
- In genetic and genomic medicine: 288
- Year to date:
- Site-wide: 19,712
- Since beginning of last month:
- Site-wide: 19,712
Multifaceted genome-wide study identifies novel regulatory loci for body mass index in Indians
genomics more details view paper- Downloaded 232 times
- Download rankings, all-time:
- Site-wide: 94,604
- In genomics: 5,794
- Year to date:
- Site-wide: 95,712
- Since beginning of last month:
- Site-wide: 95,712
Aetiological differences between novel subtypes of diabetes derived from genetic associations
endocrinology more details view paper- Downloaded 214 times
- Download rankings, all-time:
- Site-wide: 98,454
- In endocrinology: 64
- Year to date:
- Site-wide: 29,537
- Since beginning of last month:
- Site-wide: 29,537
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 144 times
- Download rankings, all-time:
- Site-wide: 112,823
- In genetics: 4,945
- Year to date:
- Site-wide: 115,938
- Since beginning of last month:
- Site-wide: 115,938
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