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Author: Regeneron Genetics Center

  • Most recently observed institution: Geisinger Health System

Rankings

  • All-time downloads: 20,233 (rank: 10,247 )
  • Categories:
    • bioinformatics: 221 (rank: 38,845 (tie) )
    • cardiovascular medicine: 1,164 (rank: 392 )
    • endocrinology: 351 (rank: 661 (tie) )
    • genetic and genomic medicine: 5,554 (rank: 215 )
    • genetics: 6,480 (rank: 3,114 )
    • genomics: 4,610 (rank: 5,617 )
    • infectious diseases: 1,686 (rank: 19,539 (tie) )
    • ophthalmology: 167 (rank: 755 (tie) )

Downloads per author, site-wide

Preprints

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 2,551 times
  • Download rankings, all-time:
    • Site-wide: 6,235
    • In genetic and genomic medicine: 27
  • Year to date:
    • Site-wide: 1,394
  • Since beginning of last month:
    • Site-wide: 39,144

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

genetics more details view paper
  • Downloaded 2,245 times
  • Download rankings, all-time:
    • Site-wide: 7,539
    • In genetics: 330
  • Year to date:
    • Site-wide: 1,855
  • Since beginning of last month:
    • Site-wide: 45,362

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

infectious diseases more details view paper
  • Downloaded 1,686 times
  • Download rankings, all-time:
    • Site-wide: 11,434
    • In infectious diseases: 1,476
  • Year to date:
    • Site-wide: 2,697
  • Since beginning of last month:
    • Site-wide: 45,236

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

genetics more details view paper
  • Downloaded 1,496 times
  • Download rankings, all-time:
    • Site-wide: 13,623
    • In genetics: 620
  • Year to date:
    • Site-wide: 114,337
  • Since beginning of last month:
    • Site-wide: 103,424

Towards a Fine-scale Population Health Monitoring System

genomics more details view paper
  • Downloaded 1,120 times
  • Download rankings, all-time:
    • Site-wide: 21,053
    • In genomics: 2,006
  • Year to date:
    • Site-wide: 15,659
  • Since beginning of last month:
    • Site-wide: 6,438

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

genetic and genomic medicine more details view paper
  • Downloaded 1,059 times
  • Download rankings, all-time:
    • Site-wide: 22,886
    • In genetic and genomic medicine: 95
  • Year to date:
    • Site-wide: 3,122
  • Since beginning of last month:
    • Site-wide: 1,360

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

genomics more details view paper
  • Downloaded 1,002 times
  • Download rankings, all-time:
    • Site-wide: 24,745
    • In genomics: 2,311
  • Year to date:
    • Site-wide: 31,023
  • Since beginning of last month:
    • Site-wide: 15,544

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

genomics more details view paper
  • Downloaded 936 times
  • Download rankings, all-time:
    • Site-wide: 27,397
    • In genomics: 2,487
  • Year to date:
    • Site-wide: 54,817
  • Since beginning of last month:
    • Site-wide: 17,499

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 889 times
  • Download rankings, all-time:
    • Site-wide: 29,432
    • In genetic and genomic medicine: 115
  • Year to date:
    • Site-wide: 4,012
  • Since beginning of last month:
    • Site-wide: 14,449

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

genomics more details view paper
  • Downloaded 707 times
  • Download rankings, all-time:
    • Site-wide: 40,475
    • In genomics: 3,298
  • Year to date:
    • Site-wide: 31,586
  • Since beginning of last month:
    • Site-wide: 23,059

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 697 times
  • Download rankings, all-time:
    • Site-wide: 41,254
    • In genetics: 1,851
  • Year to date:
    • Site-wide: 18,356
  • Since beginning of last month:
    • Site-wide: 7,926

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

genetics more details view paper
  • Downloaded 547 times
  • Download rankings, all-time:
    • Site-wide: 56,088
    • In genetics: 2,475
  • Year to date:
    • Site-wide: 50,121
  • Since beginning of last month:
    • Site-wide: 117,279

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

genetics more details view paper
  • Downloaded 537 times
  • Download rankings, all-time:
    • Site-wide: 57,444
    • In genetics: 2,537
  • Year to date:
    • Site-wide: 106,332
  • Since beginning of last month:
    • Site-wide: 100,947

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

cardiovascular medicine more details view paper
  • Downloaded 509 times
  • Download rankings, all-time:
    • Site-wide: 61,092
    • In cardiovascular medicine: 97
  • Year to date:
    • Site-wide: 36,338
  • Since beginning of last month:
    • Site-wide: 35,492

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

genomics more details view paper
  • Downloaded 507 times
  • Download rankings, all-time:
    • Site-wide: 61,429
    • In genomics: 4,453
  • Year to date:
    • Site-wide: 85,127
  • Since beginning of last month:
    • Site-wide: 42,891

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

genetics more details view paper
  • Downloaded 464 times
  • Download rankings, all-time:
    • Site-wide: 67,653
    • In genetics: 2,988
  • Year to date:
    • Site-wide: 51,566
  • Since beginning of last month:
    • Site-wide: 86,511

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

cardiovascular medicine more details view paper
  • Downloaded 414 times
  • Download rankings, all-time:
    • Site-wide: 76,069
    • In cardiovascular medicine: 134
  • Year to date:
    • Site-wide: 90,705
  • Since beginning of last month:
    • Site-wide: 62,683

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 351 times
  • Download rankings, all-time:
    • Site-wide: 88,210
    • In endocrinology: 65
  • Year to date:
    • Site-wide: 37,931
  • Since beginning of last month:
    • Site-wide: 26,839

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 338 times
  • Download rankings, all-time:
    • Site-wide: 90,970
    • In genomics: 5,725
  • Year to date:
    • Site-wide: 147,425
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 297 times
  • Download rankings, all-time:
    • Site-wide: 100,370
    • In genetics: 4,277
  • Year to date:
    • Site-wide: 137,519
  • Since beginning of last month:
    • Site-wide: 129,807

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 258 times
  • Download rankings, all-time:
    • Site-wide: 109,666
    • In genetic and genomic medicine: 544
  • Year to date:
    • Site-wide: 54,399
  • Since beginning of last month:
    • Site-wide: 70,347

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

cardiovascular medicine more details view paper
  • Downloaded 241 times
  • Download rankings, all-time:
    • Site-wide: 113,815
    • In cardiovascular medicine: 260
  • Year to date:
    • Site-wide: 57,078
  • Since beginning of last month:
    • Site-wide: 43,905

Validating gene-phenotype associations using relationships in the UMLS

bioinformatics more details view paper
  • Downloaded 221 times
  • Download rankings, all-time:
    • Site-wide: 118,911
    • In bioinformatics: 9,709
  • Year to date:
    • Site-wide: 81,548
  • Since beginning of last month:
    • Site-wide: 130,149

Genomic analyses in a large clinical cohort reveal high prevalence of MECP2 variants associated with neuropsychiatric phenotypes in adulthood

genetic and genomic medicine more details view paper
  • Downloaded 206 times
  • Download rankings, all-time:
    • Site-wide: 122,819
    • In genetic and genomic medicine: 652
  • Year to date:
    • Site-wide: 31,769
  • Since beginning of last month:
    • Site-wide: 19,253

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

genetics more details view paper
  • Downloaded 197 times
  • Download rankings, all-time:
    • Site-wide: 124,951
    • In genetics: 5,139
  • Year to date:
    • Site-wide: 150,281
  • Since beginning of last month:
    • Site-wide: None

A framework for integrated clinical risk assessment using population sequencing data

genetic and genomic medicine more details view paper
  • Downloaded 192 times
  • Download rankings, all-time:
    • Site-wide: 126,120
    • In genetic and genomic medicine: 678
  • Year to date:
    • Site-wide: 34,556
  • Since beginning of last month:
    • Site-wide: 1,353

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

genetic and genomic medicine more details view paper
  • Downloaded 170 times
  • Download rankings, all-time:
    • Site-wide: 131,409
    • In genetic and genomic medicine: 714
  • Year to date:
    • Site-wide: 39,935
  • Since beginning of last month:
    • Site-wide: 47,988

ERAP1, ERAP2, and two copies of HLA-Aw19 alleles increase the risk for Birdshot Chorioretinopathy in HLA-A29 carriers

ophthalmology more details view paper
  • Downloaded 167 times
  • Download rankings, all-time:
    • Site-wide: 132,114
    • In ophthalmology: 148
  • Year to date:
    • Site-wide: 40,833
  • Since beginning of last month:
    • Site-wide: 4,820

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 125 times
  • Download rankings, all-time:
    • Site-wide: 141,227
    • In genetic and genomic medicine: 792
  • Year to date:
    • Site-wide: 55,804
  • Since beginning of last month:
    • Site-wide: 20,685

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
  • Downloaded 104 times
  • Download rankings, all-time:
    • Site-wide: 145,339
    • In genetic and genomic medicine: 841
  • Year to date:
    • Site-wide: 66,536
  • Since beginning of last month:
    • Site-wide: 133,229

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