Rxivist logo

Author: Kaitlin E Samocha

Rankings

  • All-time downloads: 104,788 (rank: 2,056 )
  • Categories:
    • genetic and genomic medicine: 9,827 (rank: 227 )
    • genetics: 24,460 (rank: 497 )
    • genomics: 69,998 (rank: 177 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,367 times
  • Download rankings, all-time:
    • Site-wide: 416
    • In genomics: 12
  • Year to date:
    • Site-wide: 10,977
  • Since beginning of last month:
    • Site-wide: 3,143

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

genomics more details view paper
  • Downloaded 22,503 times
  • Download rankings, all-time:
    • Site-wide: 504
    • In genomics: 16
  • Year to date:
    • Site-wide: 70,560
  • Since beginning of last month:
    • Site-wide: 21,523

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 11,641 times
  • Download rankings, all-time:
    • Site-wide: 1,142
    • In genomics: 72
  • Year to date:
    • Site-wide: 886
  • Since beginning of last month:
    • Site-wide: 1,474

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

genetics more details view paper
  • Downloaded 11,105 times
  • Download rankings, all-time:
    • Site-wide: 1,215
    • In genetics: 24
  • Year to date:
    • Site-wide: 13,918
  • Since beginning of last month:
    • Site-wide: 12,156

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

genomics more details view paper
  • Downloaded 4,553 times
  • Download rankings, all-time:
    • Site-wide: 3,965
    • In genomics: 361
  • Year to date:
    • Site-wide: 50,966
  • Since beginning of last month:
    • Site-wide: 101,307

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 4,074 times
  • Download rankings, all-time:
    • Site-wide: 4,677
    • In genetic and genomic medicine: 22
  • Year to date:
    • Site-wide: 4,896
  • Since beginning of last month:
    • Site-wide: 4,758

Reduced reproductive success is associated with selective constraint on human genes

genetics more details view paper
  • Downloaded 2,856 times
  • Download rankings, all-time:
    • Site-wide: 7,810
    • In genetics: 293
  • Year to date:
    • Site-wide: 6,025
  • Since beginning of last month:
    • Site-wide: 34,020

Genetic risk factors have a substantial impact on healthy life years

genetic and genomic medicine more details view paper
  • Downloaded 2,552 times
  • Download rankings, all-time:
    • Site-wide: 9,275
    • In genetic and genomic medicine: 53
  • Year to date:
    • Site-wide: 41,852
  • Since beginning of last month:
    • Site-wide: 35,377

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

genetics more details view paper
  • Downloaded 2,544 times
  • Download rankings, all-time:
    • Site-wide: 9,318
    • In genetics: 358
  • Year to date:
    • Site-wide: 71,004
  • Since beginning of last month:
    • Site-wide: 94,086

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

genetics more details view paper
  • Downloaded 1,876 times
  • Download rankings, all-time:
    • Site-wide: 14,819
    • In genetics: 590
  • Year to date:
    • Site-wide: 15,052
  • Since beginning of last month:
    • Site-wide: 117,204

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

genetics more details view paper
  • Downloaded 1,750 times
  • Download rankings, all-time:
    • Site-wide: 16,509
    • In genetics: 658
  • Year to date:
    • Site-wide: 117,838
  • Since beginning of last month:
    • Site-wide: 208,079

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

genetics more details view paper
  • Downloaded 1,610 times
  • Download rankings, all-time:
    • Site-wide: 18,839
    • In genetics: 752
  • Year to date:
    • Site-wide: 118,362
  • Since beginning of last month:
    • Site-wide: 151,634

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

genomics more details view paper
  • Downloaded 1,432 times
  • Download rankings, all-time:
    • Site-wide: 22,683
    • In genomics: 1,958
  • Year to date:
    • Site-wide: 169,231
  • Since beginning of last month:
    • Site-wide: 174,897

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

genomics more details view paper
  • Downloaded 1,357 times
  • Download rankings, all-time:
    • Site-wide: 24,766
    • In genomics: 2,133
  • Year to date:
    • Site-wide: 50,308
  • Since beginning of last month:
    • Site-wide: 90,476

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

genomics more details view paper
  • Downloaded 1,248 times
  • Download rankings, all-time:
    • Site-wide: 28,271
    • In genomics: 2,411
  • Year to date:
    • Site-wide: 20,627
  • Since beginning of last month:
    • Site-wide: 205,983

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 1,227 times
  • Download rankings, all-time:
    • Site-wide: 29,001
    • In genetic and genomic medicine: 177
  • Year to date:
    • Site-wide: 65,563
  • Since beginning of last month:
    • Site-wide: 43,798

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

genomics more details view paper
  • Downloaded 1,159 times
  • Download rankings, all-time:
    • Site-wide: 31,764
    • In genomics: 2,633
  • Year to date:
    • Site-wide: 95,264
  • Since beginning of last month:
    • Site-wide: 174,904

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 1,001 times
  • Download rankings, all-time:
    • Site-wide: 39,790
    • In genetics: 1,576
  • Year to date:
    • Site-wide: 136,964
  • Since beginning of last month:
    • Site-wide: 89,943

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 910 times
  • Download rankings, all-time:
    • Site-wide: 46,111
    • In genetics: 1,793
  • Year to date:
    • Site-wide: 166,654
  • Since beginning of last month:
    • Site-wide: 207,996

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 907 times
  • Download rankings, all-time:
    • Site-wide: 46,364
    • In genetics: 1,810
  • Year to date:
    • Site-wide: 136,626
  • Since beginning of last month:
    • Site-wide: 180,034

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

genetic and genomic medicine more details view paper
  • Downloaded 845 times
  • Download rankings, all-time:
    • Site-wide: 51,739
    • In genetic and genomic medicine: 320
  • Year to date:
    • Site-wide: 124,525
  • Since beginning of last month:
    • Site-wide: 80,473

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery

genetic and genomic medicine more details view paper
  • Downloaded 739 times
  • Download rankings, all-time:
    • Site-wide: 63,141
    • In genetic and genomic medicine: 401
  • Year to date:
    • Site-wide: 26,727
  • Since beginning of last month:
    • Site-wide: 27,586

Optimising diagnostic yield in highly penetrant genomic disease

genetic and genomic medicine more details view paper
  • Downloaded 532 times
  • Download rankings, all-time:
    • Site-wide: 97,155
    • In genetic and genomic medicine: 664
  • Year to date:
    • Site-wide: 8,528
  • Since beginning of last month:
    • Site-wide: 48,968

PanLingua

News