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Author: Regeneron Genetics Center

  • Most recently observed institution: Perelman School of Medicine at the University of Pennsylvania

Rankings

  • All-time downloads: 15,041 (rank: 13,000 (tie) )
  • Categories:
    • bioinformatics: 202 (rank: 37,461 (tie) )
    • cardiovascular medicine: 1,026 (rank: 415 )
    • endocrinology: 283 (rank: 676 (tie) )
    • genetic and genomic medicine: 2,639 (rank: 996 (tie) )
    • genetics: 5,125 (rank: 3,749 )
    • genomics: 4,266 (rank: 5,879 (tie) )
    • infectious diseases: 1,500 (rank: 18,463 (tie) )

Downloads per author, site-wide

Preprints

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank

genetic and genomic medicine more details view paper

No download data for this paper yet.

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

genetic and genomic medicine more details view paper
  • Downloaded 1,534 times
  • Download rankings, all-time:
    • Site-wide: 11,901
    • In genetic and genomic medicine: 46
  • Year to date:
    • Site-wide: 2,293
  • Since beginning of last month:
    • Site-wide: 5,739

Genetic association analysis of SARS-CoV-2 infection in 455,838 UK Biobank participants

infectious diseases more details view paper
  • Downloaded 1,500 times
  • Download rankings, all-time:
    • Site-wide: 12,319
    • In infectious diseases: 1,430
  • Year to date:
    • Site-wide: 2,074
  • Since beginning of last month:
    • Site-wide: 2,616

Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

genetics more details view paper
  • Downloaded 1,486 times
  • Download rankings, all-time:
    • Site-wide: 12,479
    • In genetics: 591
  • Year to date:
    • Site-wide: 91,517
  • Since beginning of last month:
    • Site-wide: 87,646

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

genetics more details view paper
  • Downloaded 1,112 times
  • Download rankings, all-time:
    • Site-wide: 19,323
    • In genetics: 925
  • Year to date:
    • Site-wide: 7,153
  • Since beginning of last month:
    • Site-wide: 3,827

Towards a Fine-scale Population Health Monitoring System

genomics more details view paper
  • Downloaded 984 times
  • Download rankings, all-time:
    • Site-wide: 23,040
    • In genomics: 2,216
  • Year to date:
    • Site-wide: 17,980
  • Since beginning of last month:
    • Site-wide: 32,744

Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

genomics more details view paper
  • Downloaded 946 times
  • Download rankings, all-time:
    • Site-wide: 24,531
    • In genomics: 2,324
  • Year to date:
    • Site-wide: 27,406
  • Since beginning of last month:
    • Site-wide: 52,843

Polygenic Risk Scores for Cardio-renal-metabolic Diseases in the Penn Medicine Biobank

genomics more details view paper
  • Downloaded 869 times
  • Download rankings, all-time:
    • Site-wide: 27,636
    • In genomics: 2,532
  • Year to date:
    • Site-wide: 68,317
  • Since beginning of last month:
    • Site-wide: 80,972

Gene-level analysis of rare variants in 363,977 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

genetic and genomic medicine more details view paper
  • Downloaded 704 times
  • Download rankings, all-time:
    • Site-wide: 37,017
    • In genetic and genomic medicine: 127
  • Year to date:
    • Site-wide: 3,306
  • Since beginning of last month:
    • Site-wide: 19,272

Disrupting upstream translation in mRNAs leads to loss-of-function associated with human disease

genomics more details view paper
  • Downloaded 654 times
  • Download rankings, all-time:
    • Site-wide: 40,759
    • In genomics: 3,361
  • Year to date:
    • Site-wide: 27,118
  • Since beginning of last month:
    • Site-wide: 35,569

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

genetics more details view paper
  • Downloaded 589 times
  • Download rankings, all-time:
    • Site-wide: 46,461
    • In genetics: 2,132
  • Year to date:
    • Site-wide: 19,100
  • Since beginning of last month:
    • Site-wide: 26,022

Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

genetics more details view paper
  • Downloaded 522 times
  • Download rankings, all-time:
    • Site-wide: 53,862
    • In genetics: 2,451
  • Year to date:
    • Site-wide: 38,174
  • Since beginning of last month:
    • Site-wide: 32,383

Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data

genetics more details view paper
  • Downloaded 515 times
  • Download rankings, all-time:
    • Site-wide: 54,710
    • In genetics: 2,488
  • Year to date:
    • Site-wide: 100,226
  • Since beginning of last month:
    • Site-wide: 89,081

Exome Sequencing Reveals a High Prevalence of BRCA1 and BRCA2 Founder Variants in a Diverse Population-Based Biobank

genomics more details view paper
  • Downloaded 485 times
  • Download rankings, all-time:
    • Site-wide: 58,624
    • In genomics: 4,336
  • Year to date:
    • Site-wide: 72,268
  • Since beginning of last month:
    • Site-wide: 81,133

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.

cardiovascular medicine more details view paper
  • Downloaded 440 times
  • Download rankings, all-time:
    • Site-wide: 65,014
    • In cardiovascular medicine: 94
  • Year to date:
    • Site-wide: 37,320
  • Since beginning of last month:
    • Site-wide: 53,685

Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

genetics more details view paper
  • Downloaded 430 times
  • Download rankings, all-time:
    • Site-wide: 66,464
    • In genetics: 3,018
  • Year to date:
    • Site-wide: 42,979
  • Since beginning of last month:
    • Site-wide: 41,452

Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study

cardiovascular medicine more details view paper
  • Downloaded 387 times
  • Download rankings, all-time:
    • Site-wide: 73,636
    • In cardiovascular medicine: 116
  • Year to date:
    • Site-wide: 86,105
  • Since beginning of last month:
    • Site-wide: 139,341

Rapid response to the Alpha-1 Adrenergic Agent Phenylephrine in the Perioperative Period is Impacted by Genomics and Ancestry

genomics more details view paper
  • Downloaded 328 times
  • Download rankings, all-time:
    • Site-wide: 84,859
    • In genomics: 5,459
  • Year to date:
    • Site-wide: 137,730
  • Since beginning of last month:
    • Site-wide: 127,810

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 283 times
  • Download rankings, all-time:
    • Site-wide: 94,679
    • In endocrinology: 70
  • Year to date:
    • Site-wide: 39,670
  • Since beginning of last month:
    • Site-wide: 54,064

Characterization of exome variants and their metabolic impact in 6,716 American Indians from Southwest US

genetics more details view paper
  • Downloaded 278 times
  • Download rankings, all-time:
    • Site-wide: 95,836
    • In genetics: 4,206
  • Year to date:
    • Site-wide: 138,803
  • Since beginning of last month:
    • Site-wide: 106,108

Genome-wide survey of parent-of-origin specific associations across clinical traits derived from electronic health records

genetic and genomic medicine more details view paper
  • Downloaded 223 times
  • Download rankings, all-time:
    • Site-wide: 108,515
    • In genetic and genomic medicine: 492
  • Year to date:
    • Site-wide: 46,585
  • Since beginning of last month:
    • Site-wide: 94,811

Validating gene-phenotype associations using relationships in the UMLS

bioinformatics more details view paper
  • Downloaded 202 times
  • Download rankings, all-time:
    • Site-wide: 113,227
    • In bioinformatics: 9,383
  • Year to date:
    • Site-wide: 65,469
  • Since beginning of last month:
    • Site-wide: 118,286

Genetically downregulated interleukin-6 signaling is associated with a favorable cardiometabolic profile: a phenome-wide association study

cardiovascular medicine more details view paper
  • Downloaded 199 times
  • Download rankings, all-time:
    • Site-wide: 114,190
    • In cardiovascular medicine: 255
  • Year to date:
    • Site-wide: 53,048
  • Since beginning of last month:
    • Site-wide: 108,065

GSTM1 copy number is not associated with risk of kidney failure in a large cohort

genetics more details view paper
  • Downloaded 193 times
  • Download rankings, all-time:
    • Site-wide: 115,490
    • In genetics: 4,941
  • Year to date:
    • Site-wide: 133,163
  • Since beginning of last month:
    • Site-wide: 137,306

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

genetic and genomic medicine more details view paper
  • Downloaded 100 times
  • Download rankings, all-time:
    • Site-wide: 134,954
    • In genetic and genomic medicine: 700
  • Year to date:
    • Site-wide: 43,335
  • Since beginning of last month:
    • Site-wide: 5,543

Genetic liability for substance use associated with medical comorbidities in electronic health records of African- and European-ancestry individuals

genetic and genomic medicine more details view paper
  • Downloaded 78 times
  • Download rankings, all-time:
    • Site-wide: 138,407
    • In genetic and genomic medicine: 745
  • Year to date:
    • Site-wide: 54,804
  • Since beginning of last month:
    • Site-wide: 29,517

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