Author: Alan R. Shuldiner

Downloads per author, site-wide

Preprints

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

• Downloaded 13,701 times
• Download rankings, all-time:
  • Site-wide: 634
  • In genomics: 36
• Year to date:
  • Site-wide: 3,289
• Since beginning of last month:
  • Site-wide: 21,665

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

• Downloaded 2,551 times
• Download rankings, all-time:
  • Site-wide: 6,173
  • In genetic and genomic medicine: 27
• Year to date:
  • Site-wide: 1,345
• Since beginning of last month:
  • Site-wide: 23,475

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

• Downloaded 1,605 times
• Download rankings, all-time:
  • Site-wide: 12,194
  • In genomics: 1,253
• Year to date:
  • Site-wide: 82,228
• Since beginning of last month:
  • Site-wide: 70,909

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn′s Disease

• Downloaded 1,081 times
• Download rankings, all-time:
  • Site-wide: 21,984
  • In genetics: 999
• Year to date:
  • Site-wide: 55,357
• Since beginning of last month:
  • Site-wide: None

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

• Downloaded 924 times
• Download rankings, all-time:
  • Site-wide: 27,644
  • In genomics: 2,503
• Year to date:
  • Site-wide: 98,001
• Since beginning of last month:
  • Site-wide: None

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

• Downloaded 637 times
• Download rankings, all-time:
  • Site-wide: 45,940
  • In genetics: 2,052
• Year to date:
  • Site-wide: 105,240
• Since beginning of last month:
  • Site-wide: None

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

• Downloaded 601 times
• Download rankings, all-time:
  • Site-wide: 49,438
  • In genomics: 3,813
• Year to date:
  • Site-wide: 51,514
• Since beginning of last month:
  • Site-wide: 79,815

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

• Downloaded 547 times
• Download rankings, all-time:
  • Site-wide: 55,559
  • In genetics: 2,449
• Year to date:
  • Site-wide: 48,099
• Since beginning of last month:
  • Site-wide: 122,992

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

• Downloaded 464 times
• Download rankings, all-time:
  • Site-wide: 67,103
  • In genetics: 2,953
• Year to date:
  • Site-wide: 49,345
• Since beginning of last month:
  • Site-wide: 68,792

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

• Downloaded 327 times
• Download rankings, all-time:
  • Site-wide: 92,570
  • In genetic and genomic medicine: 420
• Year to date:
  • Site-wide: 16,470
• Since beginning of last month:
  • Site-wide: 47,803

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

• Downloaded 297 times
• Download rankings, all-time:
  • Site-wide: 99,325
  • In genetics: 4,250
• Year to date:
  • Site-wide: 134,096
• Since beginning of last month:
  • Site-wide: 111,288

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

• Downloaded 290 times
• Download rankings, all-time:
  • Site-wide: 100,819
  • In genetic and genomic medicine: 485
• Year to date:
  • Site-wide: 19,451
• Since beginning of last month:
  • Site-wide: 33,145

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

• Downloaded 258 times
• Download rankings, all-time:
  • Site-wide: 108,706
  • In genetic and genomic medicine: 541
• Year to date:
  • Site-wide: 52,017
• Since beginning of last month:
  • Site-wide: 46,883

Parkinson's disease-related motor and non-motor symptoms are not more prevalent in the Lancaster Amish

• Downloaded 146 times
• Download rankings, all-time:
  • Site-wide: 135,727
  • In epidemiology: 5,633
• Year to date:
  • Site-wide: 123,535
• Since beginning of last month:
  • Site-wide: None