Author: Alan R. Shuldiner

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Preprints

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

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  • Site-wide: 577
  • In genomics: 36
• Year to date:
  • Site-wide: 2,856
• Since beginning of last month:
  • Site-wide: 3,434

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

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  • Site-wide: 11,533
  • In genomics: 1,221
• Year to date:
  • Site-wide: 76,915
• Since beginning of last month:
  • Site-wide: 73,991

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

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  • Site-wide: 12,019
  • In genetic and genomic medicine: 46
• Year to date:
  • Site-wide: 2,449
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  • Site-wide: 7,739

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

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  • Site-wide: 21,098
  • In genetics: 995
• Year to date:
  • Site-wide: 48,250
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  • Site-wide: 76,563

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

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  • Site-wide: 26,150
  • In genomics: 2,429
• Year to date:
  • Site-wide: 85,784
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  • Site-wide: 63,698

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

• Downloaded 625 times
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  • Site-wide: 43,583
  • In genetics: 2,012
• Year to date:
  • Site-wide: 91,596
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  • Site-wide: 108,224

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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  • Site-wide: 48,641
  • In genomics: 3,816
• Year to date:
  • Site-wide: 45,241
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  • Site-wide: 46,959

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

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  • Site-wide: 54,281
  • In genetics: 2,459
• Year to date:
  • Site-wide: 40,509
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  • Site-wide: 40,973

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

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  • Site-wide: 66,150
  • In genetics: 2,988
• Year to date:
  • Site-wide: 42,554
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  • Site-wide: 39,923

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

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  • Site-wide: 96,641
  • In genetics: 4,232
• Year to date:
  • Site-wide: 139,185
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  • Site-wide: 118,146

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

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  • Site-wide: 99,544
  • In genetic and genomic medicine: 439
• Year to date:
  • Site-wide: 14,391
• Since beginning of last month:
  • Site-wide: 17,316

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

• Downloaded 238 times
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  • Site-wide: 105,800
  • In genetic and genomic medicine: 488
• Year to date:
  • Site-wide: 16,603
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  • Site-wide: 22,162

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

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  • Site-wide: 105,807
  • In genetic and genomic medicine: 489
• Year to date:
  • Site-wide: 42,214
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  • Site-wide: 44,702

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

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  • Site-wide: 128,990
  • In epidemiology: 5,302
• Year to date:
  • Site-wide: 112,596
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  • Site-wide: 66,385