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Author: Matthew E Hurles

Rankings

  • All-time downloads: 42,954 (rank: 4,030 )
  • Categories:
    • genetic and genomic medicine: 2,516 (rank: 1,345 (tie) )
    • genetics: 25,761 (rank: 290 )
    • genomics: 13,067 (rank: 1,445 )
    • immunology: 1,610 (rank: 7,250 (tie) )

Downloads per author, site-wide

Preprints

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

genetics more details view paper
  • Downloaded 7,565 times
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    • Site-wide: 1,346
    • In genetics: 36
  • Year to date:
    • Site-wide: 30,815
  • Since beginning of last month:
    • Site-wide: 73,135

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,183 times
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    • Site-wide: 1,436
    • In genetics: 44
  • Year to date:
    • Site-wide: 71,572
  • Since beginning of last month:
    • Site-wide: 73,026

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: 12,535
  • Since beginning of last month:
    • Site-wide: 22,452

De novo mutations in regulatory elements cause neurodevelopmental disorders

genetics more details view paper
  • Downloaded 2,139 times
  • Download rankings, all-time:
    • Site-wide: 7,923
    • In genetics: 348
  • Year to date:
    • Site-wide: 104,056
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 2,118 times
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    • Site-wide: 8,022
    • In genetics: 352
  • Year to date:
    • Site-wide: 8,835
  • Since beginning of last month:
    • Site-wide: 7,991

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

genetics more details view paper
  • Downloaded 1,942 times
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    • Site-wide: 9,128
    • In genetics: 390
  • Year to date:
    • Site-wide: 72,516
  • Since beginning of last month:
    • Site-wide: 72,802

Quantifying the contribution of recessive coding variation to developmental disorders

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  • Downloaded 1,914 times
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    • Site-wide: 9,331
    • In genetics: 403
  • Year to date:
    • Site-wide: 97,032
  • Since beginning of last month:
    • Site-wide: 72,971

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

immunology more details view paper
  • Downloaded 1,610 times
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    • Site-wide: 12,040
    • In immunology: 385
  • Year to date:
    • Site-wide: 30,787
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    • Site-wide: 82,571

Pathogenicity and selective constraint on variation near splice sites

genetics more details view paper
  • Downloaded 1,565 times
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    • Site-wide: 12,513
    • In genetics: 568
  • Year to date:
    • Site-wide: 75,997
  • Since beginning of last month:
    • Site-wide: 64,455

Striking differences in patterns of germline mutation between mice and humans

genomics more details view paper
  • Downloaded 1,443 times
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    • Site-wide: 14,162
    • In genomics: 1,441
  • Year to date:
    • Site-wide: 81,743
  • Since beginning of last month:
    • Site-wide: 70,965

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: 18,704
    • In genomics: 1,823
  • Year to date:
    • Site-wide: 84,285
  • Since beginning of last month:
    • Site-wide: 70,968

Population Structure, Stratification and Introgression of Human Structural Variation

genomics more details view paper
  • Downloaded 1,178 times
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    • Site-wide: 19,193
    • In genomics: 1,872
  • Year to date:
    • Site-wide: 70,667
  • Since beginning of last month:
    • Site-wide: 88,843

A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals

genomics more details view paper
  • Downloaded 1,177 times
  • Download rankings, all-time:
    • Site-wide: 19,224
    • In genomics: 1,875
  • Year to date:
    • Site-wide: 141,573
  • Since beginning of last month:
    • Site-wide: None

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

genomics more details view paper
  • Downloaded 1,049 times
  • Download rankings, all-time:
    • Site-wide: 22,780
    • In genomics: 2,161
  • Year to date:
    • Site-wide: 107,356
  • Since beginning of last month:
    • Site-wide: 62,853

Detection of structural mosaicism from targeted and whole-genome sequencing data

genomics more details view paper
  • Downloaded 990 times
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    • Site-wide: 24,796
    • In genomics: 2,312
  • Year to date:
    • Site-wide: 136,231
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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
  • Download rankings, all-time:
    • Site-wide: 26,246
    • In genetic and genomic medicine: 103
  • Year to date:
    • Site-wide: 15,660
  • Since beginning of last month:
    • Site-wide: 104,687

The epigenomic landscape regulating organogenesis in human embryos linked to developmental disorders

genomics more details view paper
  • Downloaded 832 times
  • Download rankings, all-time:
    • Site-wide: 31,683
    • In genomics: 2,771
  • Year to date:
    • Site-wide: 93,420
  • Since beginning of last month:
    • Site-wide: 87,009

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 800 times
  • Download rankings, all-time:
    • Site-wide: 33,471
    • In genetics: 1,536
  • Year to date:
    • Site-wide: 141,323
  • Since beginning of last month:
    • Site-wide: None

Genetic and pharmacological causes of germline hypermutation

genomics more details view paper
  • Downloaded 777 times
  • Download rankings, all-time:
    • Site-wide: 34,909
    • In genomics: 2,954
  • Year to date:
    • Site-wide: 4,470
  • Since beginning of last month:
    • Site-wide: 37,144

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

genetic and genomic medicine more details view paper
  • Downloaded 679 times
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    • Site-wide: 41,892
    • In genetic and genomic medicine: 164
  • Year to date:
    • Site-wide: 50,535
  • Since beginning of last month:
    • Site-wide: 106,845

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

genetics more details view paper
  • Downloaded 535 times
  • Download rankings, all-time:
    • Site-wide: 56,490
    • In genetics: 2,498
  • Year to date:
    • Site-wide: 111,947
  • Since beginning of last month:
    • Site-wide: 80,556

Genetic correlates of phenotypic heterogeneity in autism

genetic and genomic medicine more details view paper
  • Downloaded 467 times
  • Download rankings, all-time:
    • Site-wide: 65,895
    • In genetic and genomic medicine: 264
  • Year to date:
    • Site-wide: 31,714
  • Since beginning of last month:
    • Site-wide: 29,544

Detecting cryptic clinically-relevant structural variation in exome sequencing data increases diagnostic yield for developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 409 times
  • Download rankings, all-time:
    • Site-wide: 75,290
    • In genetic and genomic medicine: 314
  • Year to date:
    • Site-wide: 30,876
  • Since beginning of last month:
    • Site-wide: 18,826

Variant Library Annotation Tool (VaLiAnT): an oligonucleotide library design and annotation tool for Saturation Genome Editing and other Deep Mutational Scanning experiments

genomics more details view paper
  • Downloaded 315 times
  • Download rankings, all-time:
    • Site-wide: 94,204
    • In genomics: 5,840
  • Year to date:
    • Site-wide: 16,598
  • Since beginning of last month:
    • Site-wide: None

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

genetic and genomic medicine more details view paper
  • Downloaded 9 times
  • Download rankings, all-time:
    • Site-wide: 152,567
    • In genetic and genomic medicine: 923
  • Year to date:
    • Site-wide: 152,553
  • Since beginning of last month:
    • Site-wide: 8,788

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