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Author: David J. Cutler

Rankings

  • All-time downloads: 31,385 (rank: 8,789 )
  • Categories:
    • bioinformatics: 1,002 (rank: 20,797 (tie) )
    • gastroenterology: 651 (rank: 1,042 (tie) )
    • genetic and genomic medicine: 2,176 (rank: 3,032 (tie) )
    • genetics: 23,021 (rank: 523 )
    • genomics: 723 (rank: 37,174 (tie) )
    • neurology: 2,553 (rank: 736 (tie) )
    • neuroscience: 367 (rank: 81,537 (tie) )

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Preprints

POIROT: A powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes

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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

genetics more details view paper
  • Downloaded 11,044 times
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    • Site-wide: 1,205
    • In genetics: 24
  • Year to date:
    • Site-wide: 13,881
  • Since beginning of last month:
    • Site-wide: 16,242

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,328 times
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    • Site-wide: 2,014
    • In genetics: 47
  • Year to date:
    • Site-wide: 130,663
  • Since beginning of last month:
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Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

neurology more details view paper
  • Downloaded 2,766 times
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    • Site-wide: 7,988
    • In neurology: 24
  • Year to date:
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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 2,357 times
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    • Site-wide: 10,161
    • In genetic and genomic medicine: 62
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,600 times
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    • Site-wide: 18,367
    • In genetics: 731
  • Year to date:
    • Site-wide: 154,188
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Genetic control of the human brain proteome

genetics more details view paper
  • Downloaded 1,397 times
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    • Site-wide: 22,804
    • In genetics: 907
  • Year to date:
    • Site-wide: 116,830
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    • Site-wide: 83,023

Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale

bioinformatics more details view paper
  • Downloaded 1,034 times
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    • Site-wide: 36,484
    • In bioinformatics: 3,768
  • Year to date:
    • Site-wide: 135,790
  • Since beginning of last month:
    • Site-wide: 68,706

Analysis of copy number variants on chromosome 21 in Down syndrome-associated congenital heart defects

genomics more details view paper
  • Downloaded 756 times
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    • Site-wide: 58,543
    • In genomics: 4,124
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    • Site-wide: 70,607

PEMapper / PECaller: A simplified approach to whole-genome sequencing

genetics more details view paper
  • Downloaded 696 times
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    • Site-wide: 66,010
    • In genetics: 2,533
  • Year to date:
    • Site-wide: 180,676
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    • Site-wide: 79,316

Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

genetics more details view paper
  • Downloaded 601 times
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    • Site-wide: 80,150
    • In genetics: 3,082
  • Year to date:
    • Site-wide: 116,669
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    • Site-wide: 115,084

Ileal derived organoids from Crohns disease patients show unique transcriptomic and secretomic signatures

gastroenterology more details view paper
  • Downloaded 523 times
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    • Site-wide: 95,104
    • In gastroenterology: 117
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    • Site-wide: 80,528
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    • Site-wide: 136,850

Loss-of-function of OTUD7A in the schizophrenia-associated 15q13.3 deletion impairs synapse development and function in human neurons

neuroscience more details view paper
  • Downloaded 444 times
  • Download rankings, all-time:
    • Site-wide: 113,456
    • In neuroscience: 18,529
  • Year to date:
    • Site-wide: 13,108
  • Since beginning of last month:
    • Site-wide: 19,783

Leveraging Family History in Case-Control Analyses of Rare Variation

genetics more details view paper
  • Downloaded 366 times
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    • Site-wide: 134,765
    • In genetics: 5,090
  • Year to date:
    • Site-wide: 187,580
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    • Site-wide: 145,846

Sex-specific recombination predicts parent of origin for recurrent genomic disorders

genetics more details view paper
  • Downloaded 295 times
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    • Site-wide: 155,918
    • In genetics: 5,755
  • Year to date:
    • Site-wide: 166,535
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    • Site-wide: 84,606

Longitudinal DNA Methylation Profiling of the Rectal Mucosa Identifies Cell-specific Signatures of Disease Status, Severity and Clinical Outcomes in Ulcerative Colitis

gastroenterology more details view paper
  • Downloaded 178 times
  • Download rankings, all-time:
    • Site-wide: 186,946
    • In gastroenterology: 296
  • Year to date:
    • Site-wide: 52,632
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    • Site-wide: 168,508

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