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Author: Kaitlin E Samocha

Rankings

  • All-time downloads: 91,040 (rank: 1,557 )
  • Categories:
    • genetic and genomic medicine: 3,858 (rank: 839 )
    • genetics: 22,314 (rank: 424 )
    • genomics: 64,868 (rank: 139 )

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

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    • Site-wide: 305
    • In genomics: 11
  • Year to date:
    • Site-wide: 2,815
  • Since beginning of last month:
    • Site-wide: 17,768

Analysis of protein-coding genetic variation in 60,706 humans

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  • Downloaded 22,118 times
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    • Site-wide: 351
    • In genomics: 13
  • Year to date:
    • Site-wide: 28,890
  • Since beginning of last month:
    • Site-wide: 48,560

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

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  • Downloaded 10,415 times
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    • Site-wide: 909
    • In genetics: 23
  • Year to date:
    • Site-wide: 8,350
  • Since beginning of last month:
    • Site-wide: 34,495

Regional missense constraint improves variant deleteriousness prediction

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  • Downloaded 8,989 times
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    • Site-wide: 1,080
    • In genomics: 81
  • Year to date:
    • Site-wide: 1,982
  • Since beginning of last month:
    • Site-wide: 3,643

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

genomics more details view paper
  • Downloaded 4,108 times
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    • Site-wide: 3,116
    • In genomics: 322
  • Year to date:
    • Site-wide: 12,566
  • Since beginning of last month:
    • Site-wide: 21,750

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

genetics more details view paper
  • Downloaded 2,411 times
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    • Site-wide: 6,661
    • In genetics: 292
  • Year to date:
    • Site-wide: 97,852
  • Since beginning of last month:
    • Site-wide: 48,804

A cross-disorder dosage sensitivity map of the human genome

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  • Downloaded 2,227 times
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    • Site-wide: 7,482
    • In genetic and genomic medicine: 31
  • Year to date:
    • Site-wide: 1,066
  • Since beginning of last month:
    • Site-wide: 3,842

Sex-biased reduction in reproductive success drives selective constraint on human genes

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  • Downloaded 2,118 times
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    • Site-wide: 8,025
    • In genetics: 352
  • Year to date:
    • Site-wide: 8,870
  • Since beginning of last month:
    • Site-wide: 9,073

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

genetics more details view paper
  • Downloaded 1,681 times
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    • Site-wide: 11,303
    • In genetics: 506
  • Year to date:
    • Site-wide: 140,402
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    • Site-wide: None

Gene family information facilitates variant interpretation and identification of disease-associated genes

genetics more details view paper
  • Downloaded 1,674 times
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    • Site-wide: 11,385
    • In genetics: 510
  • Year to date:
    • Site-wide: 94,985
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    • Site-wide: None

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,489 times
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    • Site-wide: 13,493
    • In genetics: 617
  • Year to date:
    • Site-wide: 105,177
  • Since beginning of last month:
    • Site-wide: None

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

genomics more details view paper
  • Downloaded 1,343 times
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    • Site-wide: 15,789
    • In genomics: 1,570
  • Year to date:
    • Site-wide: 123,898
  • Since beginning of last month:
    • Site-wide: None

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

genomics more details view paper
  • Downloaded 1,198 times
  • Download rankings, all-time:
    • Site-wide: 18,722
    • In genomics: 1,823
  • Year to date:
    • Site-wide: 84,310
  • Since beginning of last month:
    • Site-wide: 112,313

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
  • Downloaded 1,160 times
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    • Site-wide: 19,646
    • In genomics: 1,905
  • Year to date:
    • Site-wide: 139,432
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    • Site-wide: None

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
  • Downloaded 1,089 times
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    • Site-wide: 21,537
    • In genomics: 2,061
  • Year to date:
    • Site-wide: 144,626
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    • Site-wide: None

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 952 times
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    • Site-wide: 26,263
    • In genetic and genomic medicine: 103
  • Year to date:
    • Site-wide: 15,700
  • Since beginning of last month:
    • Site-wide: 80,031

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 874 times
  • Download rankings, all-time:
    • Site-wide: 29,602
    • In genetics: 1,359
  • Year to date:
    • Site-wide: 94,804
  • Since beginning of last month:
    • Site-wide: 110,374

Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

genetics more details view paper
  • Downloaded 852 times
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    • Site-wide: 30,672
    • In genetics: 1,412
  • Year to date:
    • Site-wide: 150,737
  • Since beginning of last month:
    • Site-wide: None

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 800 times
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    • Site-wide: 33,489
    • In genetics: 1,536
  • Year to date:
    • Site-wide: 141,739
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    • Site-wide: None

The contribution of X-linked coding variation to severe developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 679 times
  • Download rankings, all-time:
    • Site-wide: 41,910
    • In genetic and genomic medicine: 164
  • Year to date:
    • Site-wide: 50,578
  • Since beginning of last month:
    • Site-wide: 77,395

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