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Author: Mark I. McCarthy

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
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    • 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
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    • 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
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    • 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
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    • Site-wide: 4,908
    • In genetics: 229
  • Year to date:
    • Site-wide: 15,425
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    • 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
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    • 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
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    • Site-wide: 8,274
    • In genetics: 403
  • Year to date:
    • Site-wide: 27,690
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    • 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
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    • Site-wide: 8,345
    • In genetic and genomic medicine: 24
  • Year to date:
    • Site-wide: 3,148
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    • Site-wide: 3,148

An Effector Index to Predict Causal Genes at GWAS Loci

bioinformatics more details view paper
  • Downloaded 1,713 times
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    • Site-wide: 8,763
    • In bioinformatics: 1,073
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    • Site-wide: None
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    • 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
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    • Site-wide: 9,403
    • In genetics: 462
  • Year to date:
    • Site-wide: 72,874
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    • 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
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    • Site-wide: 9,404
    • In genetics: 463
  • Year to date:
    • Site-wide: 70,083
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    • 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
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    • 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
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    • 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
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    • 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
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    • 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
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    • 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
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    • 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
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    • 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
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    • 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
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    • 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
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    • 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
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    • Site-wide: 74,022
    • In epidemiology: 3,060
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    • Site-wide: 78,217
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    • 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
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    • Site-wide: 76,160
    • In epidemiology: 3,128
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    • Site-wide: 37,702
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    • 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
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    • Site-wide: 86,180
    • In genetic and genomic medicine: 288
  • Year to date:
    • Site-wide: 19,712
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    • 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
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    • Site-wide: 94,604
    • In genomics: 5,794
  • Year to date:
    • Site-wide: 95,712
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    • Site-wide: 95,712

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 214 times
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    • Site-wide: 98,454
    • In endocrinology: 64
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    • Site-wide: 29,537
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    • 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
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    • Site-wide: 115,938

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