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Author: Regeneron Genetics Center

  • Most recently observed institution: Regeneron Genetics Center, Tarrytown, NY, USA

Rankings

  • All-time downloads: 46,304 (rank: 5,400 )
  • Categories:
    • bioinformatics: 639 (rank: 30,432 (tie) )
    • cardiovascular medicine: 1,714 (rank: 449 )
    • endocrinology: 542 (rank: 978 (tie) )
    • genetic and genomic medicine: 12,230 (rank: 110 )
    • genetics: 19,330 (rank: 886 )
    • genomics: 5,420 (rank: 5,805 )
    • infectious diseases: 3,334 (rank: 17,345 (tie) )
    • nephrology: 312 (rank: 1,320 (tie) )
    • obstetrics and gynecology: 138 (rank: 2,109 (tie) )
    • ophthalmology: 340 (rank: 814 (tie) )

Downloads per author, site-wide

Preprints

Regionally enriched rare deleterious exonic variants in the UK and Ireland

genetics more details view paper

No download data for this paper yet.

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

genetics more details view paper
  • Downloaded 6,234 times
  • Download rankings, all-time:
    • Site-wide: 2,469
    • In genetics: 86
  • Year to date:
    • Site-wide: 214
  • Since beginning of last month:
    • Site-wide: 76

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

genetics more details view paper
  • Downloaded 5,711 times
  • Download rankings, all-time:
    • Site-wide: 2,775
    • In genetics: 83
  • Year to date:
    • Site-wide: 235
  • Since beginning of last month:
    • Site-wide: 462

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 4,766 times
  • Download rankings, all-time:
    • Site-wide: 3,539
    • In genetic and genomic medicine: 16
  • Year to date:
    • Site-wide: 2,752
  • Since beginning of last month:
    • Site-wide: 7,050

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

genetics more details view paper
  • Downloaded 2,879 times
  • Download rankings, all-time:
    • Site-wide: 7,326
    • In genetics: 276
  • Year to date:
    • Site-wide: 54,957
  • Since beginning of last month:
    • Site-wide: 33,320

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

infectious diseases more details view paper
  • Downloaded 2,730 times
  • Download rankings, all-time:
    • Site-wide: 7,894
    • In infectious diseases: 1,403
  • Year to date:
    • Site-wide: 5,944
  • Since beginning of last month:
    • Site-wide: 12,859

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 2,281 times
  • Download rankings, all-time:
    • Site-wide: 10,291
    • In genetic and genomic medicine: 62
  • Year to date:
    • Site-wide: 3,443
  • Since beginning of last month:
    • Site-wide: 6,039

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

genetics more details view paper
  • Downloaded 1,612 times
  • Download rankings, all-time:
    • Site-wide: 17,457
    • In genetics: 693
  • Year to date:
    • Site-wide: 143,555
  • Since beginning of last month:
    • Site-wide: None

Towards a Fine-scale Population Health Monitoring System

genomics more details view paper
  • Downloaded 1,496 times
  • Download rankings, all-time:
    • Site-wide: 19,603
    • In genomics: 1,759
  • Year to date:
    • Site-wide: 30,186
  • Since beginning of last month:
    • Site-wide: 37,180

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 1,416 times
  • Download rankings, all-time:
    • Site-wide: 21,349
    • In genetic and genomic medicine: 124
  • Year to date:
    • Site-wide: 21,351
  • Since beginning of last month:
    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,118 times
  • Download rankings, all-time:
    • Site-wide: 30,993
    • In genomics: 2,571
  • Year to date:
    • Site-wide: 107,192
  • Since beginning of last month:
    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,087 times
  • Download rankings, all-time:
    • Site-wide: 32,369
    • In genomics: 2,639
  • Year to date:
    • Site-wide: 78,405
  • Since beginning of last month:
    • Site-wide: None

Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study

genetics more details view paper
  • Downloaded 1,021 times
  • Download rankings, all-time:
    • Site-wide: 35,607
    • In genetics: 1,772
  • Year to date:
    • Site-wide: 2,681
  • Since beginning of last month:
    • Site-wide: 2,656

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 814 times
  • Download rankings, all-time:
    • Site-wide: 50,069
    • In genetics: 2,030
  • Year to date:
    • Site-wide: 105,996
  • Since beginning of last month:
    • Site-wide: 49,983

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

cardiovascular medicine more details view paper
  • Downloaded 800 times
  • Download rankings, all-time:
    • Site-wide: 51,461
    • In cardiovascular medicine: 98
  • Year to date:
    • Site-wide: 51,357
  • Since beginning of last month:
    • Site-wide: 65,983

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

genetic and genomic medicine more details view paper
  • Downloaded 794 times
  • Download rankings, all-time:
    • Site-wide: 51,981
    • In genetic and genomic medicine: 309
  • Year to date:
    • Site-wide: 25,808
  • Since beginning of last month:
    • Site-wide: 45,906

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

genomics more details view paper
  • Downloaded 790 times
  • Download rankings, all-time:
    • Site-wide: 52,336
    • In genomics: 3,769
  • Year to date:
    • Site-wide: 162,836
  • Since beginning of last month:
    • Site-wide: 172,290

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

genetics more details view paper
  • Downloaded 768 times
  • Download rankings, all-time:
    • Site-wide: 54,547
    • In genetics: 2,221
  • Year to date:
    • Site-wide: 75,138
  • Since beginning of last month:
    • Site-wide: 25,797

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

infectious diseases more details view paper
  • Downloaded 758 times
  • Download rankings, all-time:
    • Site-wide: 55,545
    • In infectious diseases: 4,378
  • Year to date:
    • Site-wide: 4,277
  • Since beginning of last month:
    • Site-wide: 3,619

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

genetics more details view paper
  • Downloaded 644 times
  • Download rankings, all-time:
    • Site-wide: 69,892
    • In genetics: 2,690
  • Year to date:
    • Site-wide: 122,844
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 607 times
  • Download rankings, all-time:
    • Site-wide: 75,432
    • In genetics: 2,918
  • Year to date:
    • Site-wide: 178,799
  • Since beginning of last month:
    • Site-wide: 132,503

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

genomics more details view paper
  • Downloaded 577 times
  • Download rankings, all-time:
    • Site-wide: 80,353
    • In genomics: 5,132
  • Year to date:
    • Site-wide: 167,756
  • Since beginning of last month:
    • Site-wide: None

Aetiological differences between novel subtypes of diabetes derived from genetic associations

endocrinology more details view paper
  • Downloaded 553 times
  • Download rankings, all-time:
    • Site-wide: 84,765
    • In endocrinology: 83
  • Year to date:
    • Site-wide: 106,349
  • Since beginning of last month:
    • Site-wide: 81,452

A framework for integrated clinical risk assessment using population sequencing data

genetic and genomic medicine more details view paper
  • Downloaded 546 times
  • Download rankings, all-time:
    • Site-wide: 86,010
    • In genetic and genomic medicine: 528
  • Year to date:
    • Site-wide: 31,989
  • Since beginning of last month:
    • Site-wide: None

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

cardiovascular medicine more details view paper
  • Downloaded 482 times
  • Download rankings, all-time:
    • Site-wide: 99,389
    • In cardiovascular medicine: 246
  • Year to date:
    • Site-wide: 49,481
  • Since beginning of last month:
    • Site-wide: 32,983

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

cardiovascular medicine more details view paper
  • Downloaded 470 times
  • Download rankings, all-time:
    • Site-wide: 102,264
    • In cardiovascular medicine: 245
  • Year to date:
    • Site-wide: 182,857
  • Since beginning of last month:
    • Site-wide: 81,088

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 431 times
  • Download rankings, all-time:
    • Site-wide: 111,432
    • In genetic and genomic medicine: 697
  • Year to date:
    • Site-wide: 106,549
  • Since beginning of last month:
    • Site-wide: None

Multi-ancestry GWAS deciphers genetic architecture of abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

genetic and genomic medicine more details view paper
  • Downloaded 412 times
  • Download rankings, all-time:
    • Site-wide: 116,347
    • In genetic and genomic medicine: 808
  • Year to date:
    • Site-wide: 11,621
  • Since beginning of last month:
    • Site-wide: None

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 388 times
  • Download rankings, all-time:
    • Site-wide: 122,750
    • In genomics: 6,826
  • Year to date:
    • Site-wide: 165,423
  • Since beginning of last month:
    • Site-wide: 105,534

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

genetics more details view paper
  • Downloaded 370 times
  • Download rankings, all-time:
    • Site-wide: 127,658
    • In genetics: 4,834
  • Year to date:
    • Site-wide: 171,328
  • Since beginning of last month:
    • Site-wide: 149,498

Validating gene-phenotype associations using relationships in the UMLS

bioinformatics more details view paper
  • Downloaded 368 times
  • Download rankings, all-time:
    • Site-wide: 128,389
    • In bioinformatics: 10,590
  • Year to date:
    • Site-wide: 85,957
  • Since beginning of last month:
    • Site-wide: 33,755

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 361 times
  • Download rankings, all-time:
    • Site-wide: 130,295
    • In genetic and genomic medicine: 869
  • Year to date:
    • Site-wide: 167,211
  • Since beginning of last month:
    • Site-wide: 64,220

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 358 times
  • Download rankings, all-time:
    • Site-wide: 131,122
    • In genetic and genomic medicine: 875
  • Year to date:
    • Site-wide: 40,040
  • Since beginning of last month:
    • Site-wide: 89,741

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 347 times
  • Download rankings, all-time:
    • Site-wide: 134,246
    • In ophthalmology: 146
  • Year to date:
    • Site-wide: 117,608
  • Since beginning of last month:
    • Site-wide: 152,077

Diagnostic Utility of Exome Sequencing for Polycystic Kidney Disease

nephrology more details view paper
  • Downloaded 338 times
  • Download rankings, all-time:
    • Site-wide: 136,932
    • In nephrology: 129
  • Year to date:
    • Site-wide: 16,113
  • Since beginning of last month:
    • Site-wide: 27,799

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 313 times
  • Download rankings, all-time:
    • Site-wide: 144,456
    • In genetic and genomic medicine: 1,024
  • Year to date:
    • Site-wide: 75,633
  • Since beginning of last month:
    • Site-wide: 15,078

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

genetic and genomic medicine more details view paper
  • Downloaded 309 times
  • Download rankings, all-time:
    • Site-wide: 145,632
    • In genetic and genomic medicine: 1,001
  • Year to date:
    • Site-wide: 127,632
  • Since beginning of last month:
    • Site-wide: 90,014

netCRS: Network-based comorbidity risk score for prediction of myocardial infarction using biobank-scaled PheWAS data

bioinformatics more details view paper
  • Downloaded 303 times
  • Download rankings, all-time:
    • Site-wide: 147,314
    • In bioinformatics: 11,478
  • Year to date:
    • Site-wide: 83,231
  • Since beginning of last month:
    • Site-wide: 120,215

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings

genetic and genomic medicine more details view paper
  • Downloaded 298 times
  • Download rankings, all-time:
    • Site-wide: 148,783
    • In genetic and genomic medicine: 1,050
  • Year to date:
    • Site-wide: 39,528
  • Since beginning of last month:
    • Site-wide: 56,074

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

genetics more details view paper
  • Downloaded 233 times
  • Download rankings, all-time:
    • Site-wide: 167,279
    • In genetics: 6,132
  • Year to date:
    • Site-wide: 201,041
  • Since beginning of last month:
    • Site-wide: 159,540

Loss-of-Function FLNC Variants are Associated with Arrhythmogenic Cardiomyopathy Phenotypes when Identified through Exome Sequencing of a General Clinical Population

genetic and genomic medicine more details view paper
  • Downloaded 212 times
  • Download rankings, all-time:
    • Site-wide: 172,847
    • In genetic and genomic medicine: 1,220
  • Year to date:
    • Site-wide: 75,102
  • Since beginning of last month:
    • Site-wide: 120,022

Inference of causal relationships based on the genetics of cardiometabolic traits and conditions unique to females in >50,000 participants

obstetrics and gynecology more details view paper
  • Downloaded 165 times
  • Download rankings, all-time:
    • Site-wide: 183,735
    • In obstetrics and gynecology: 262
  • Year to date:
    • Site-wide: 46,394
  • Since beginning of last month:
    • Site-wide: 18,640

Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population

genetic and genomic medicine more details view paper
  • Downloaded 88 times
  • Download rankings, all-time:
    • Site-wide: 196,520
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 85,097
  • Since beginning of last month:
    • Site-wide: 2,247

Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians

genetic and genomic medicine more details view paper
  • Downloaded 56 times
  • Download rankings, all-time:
    • Site-wide: 200,312
    • In genetic and genomic medicine: 1,542
  • Year to date:
    • Site-wide: 121,158
  • Since beginning of last month:
    • Site-wide: 74,217

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