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Author: Michael E. Talkowski

Rankings

  • All-time downloads: 95,379 (rank: 2,348 )
  • Categories:
    • bioengineering: 639 (rank: 10,472 (tie) )
    • bioinformatics: 4,336 (rank: 4,176 )
    • developmental biology: 284 (rank: 23,019 (tie) )
    • genetic and genomic medicine: 6,594 (rank: 423 )
    • genetics: 12,237 (rank: 1,589 )
    • genomics: 62,315 (rank: 204 )
    • neurology: 2,553 (rank: 736 (tie) )
    • neuroscience: 1,606 (rank: 23,272 (tie) )
    • psychiatry and clinical psychology: 546 (rank: 4,529 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
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    • Site-wide: 411
    • In genomics: 12
  • Year to date:
    • Site-wide: 4,001
  • Since beginning of last month:
    • Site-wide: 2,826

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,676 times
  • Download rankings, all-time:
    • Site-wide: 1,117
    • In genomics: 67
  • Year to date:
    • Site-wide: 22,190
  • Since beginning of last month:
    • Site-wide: 18,555

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: 13,904
  • Since beginning of last month:
    • Site-wide: 16,191

High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

genomics more details view paper
  • Downloaded 7,470 times
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    • Site-wide: 1,972
    • In genomics: 152
  • Year to date:
    • Site-wide: 635
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    • Site-wide: 3,545

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 3,890 times
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    • Site-wide: 4,867
    • In genetic and genomic medicine: 26
  • Year to date:
    • Site-wide: 2,626
  • Since beginning of last month:
    • Site-wide: None

CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing

bioinformatics more details view paper
  • Downloaded 3,039 times
  • Download rankings, all-time:
    • Site-wide: 6,982
    • In bioinformatics: 631
  • Year to date:
    • Site-wide: 62,291
  • Since beginning of last month:
    • Site-wide: 169,621

Fine-mapping of nuclear compartments using ultra-deep Hi-C shows that active promoter and enhancer elements localize in the active A compartment even when adjacent sequences do not

genomics more details view paper
  • Downloaded 2,927 times
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    • Site-wide: 7,355
    • In genomics: 756
  • Year to date:
    • Site-wide: 4,295
  • Since beginning of last month:
    • Site-wide: 2,072

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: 7,989
    • In neurology: 24
  • Year to date:
    • Site-wide: 1,046
  • Since beginning of last month:
    • Site-wide: 8,916

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

genomics more details view paper
  • Downloaded 2,693 times
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    • Site-wide: 8,313
    • In genomics: 766
  • Year to date:
    • Site-wide: 137,930
  • Since beginning of last month:
    • Site-wide: 41,191

Mapping And Phasing Of Structural Variation In Patient Genomes Using Nanopore Sequencing

genomics more details view paper
  • Downloaded 2,582 times
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    • Site-wide: 8,854
    • In genomics: 826
  • Year to date:
    • Site-wide: 169,100
  • Since beginning of last month:
    • Site-wide: 99,968

Indexcov: fast coverage quality control for whole-genome sequencing

genomics more details view paper
  • Downloaded 1,952 times
  • Download rankings, all-time:
    • Site-wide: 13,511
    • In genomics: 1,212
  • Year to date:
    • Site-wide: 159,466
  • Since beginning of last month:
    • Site-wide: 55,494

The female protective effect against autism spectrum disorder

genetic and genomic medicine more details view paper
  • Downloaded 1,878 times
  • Download rankings, all-time:
    • Site-wide: 14,315
    • In genetic and genomic medicine: 92
  • Year to date:
    • Site-wide: 4,691
  • Since beginning of last month:
    • Site-wide: 10,541

Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

neuroscience more details view paper
  • Downloaded 1,625 times
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    • Site-wide: 17,944
    • In neuroscience: 1,910
  • Year to date:
    • Site-wide: 158,827
  • Since beginning of last month:
    • Site-wide: 70,638

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

genomics more details view paper
  • Downloaded 1,455 times
  • Download rankings, all-time:
    • Site-wide: 21,340
    • In genomics: 2,099
  • Year to date:
    • Site-wide: 18,492
  • Since beginning of last month:
    • Site-wide: 12,575

A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders

bioinformatics more details view paper
  • Downloaded 1,375 times
  • Download rankings, all-time:
    • Site-wide: 23,359
    • In bioinformatics: 2,500
  • Year to date:
    • Site-wide: 66,966
  • Since beginning of last month:
    • Site-wide: 175,674

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

genomics more details view paper
  • Downloaded 1,360 times
  • Download rankings, all-time:
    • Site-wide: 23,763
    • In genomics: 2,006
  • Year to date:
    • Site-wide: 120,199
  • Since beginning of last month:
    • Site-wide: 119,210

Functional annotation of rare structural variation in the human brain

genomics more details view paper
  • Downloaded 1,357 times
  • Download rankings, all-time:
    • Site-wide: 23,859
    • In genomics: 2,007
  • Year to date:
    • Site-wide: 136,166
  • Since beginning of last month:
    • Site-wide: 58,892

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

genomics more details view paper
  • Downloaded 1,180 times
  • Download rankings, all-time:
    • Site-wide: 29,762
    • In genomics: 2,447
  • Year to date:
    • Site-wide: 109,286
  • Since beginning of last month:
    • Site-wide: 81,572

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 1,131 times
  • Download rankings, all-time:
    • Site-wide: 31,833
    • In genetic and genomic medicine: 218
  • Year to date:
    • Site-wide: 2,831
  • Since beginning of last month:
    • Site-wide: 11,598

Structural disruption of genomic regions containing ultraconserved elements is associated with neurodevelopmental phenotypes

genomics more details view paper
  • Downloaded 885 times
  • Download rankings, all-time:
    • Site-wide: 46,314
    • In genomics: 3,444
  • Year to date:
    • Site-wide: 144,305
  • Since beginning of last month:
    • Site-wide: 70,995

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

genomics more details view paper
  • Downloaded 732 times
  • Download rankings, all-time:
    • Site-wide: 61,432
    • In genomics: 4,242
  • Year to date:
    • Site-wide: 144,685
  • Since beginning of last month:
    • Site-wide: 152,319

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

genomics more details view paper
  • Downloaded 717 times
  • Download rankings, all-time:
    • Site-wide: 63,289
    • In genomics: None
  • Year to date:
    • Site-wide: 5,920
  • Since beginning of last month:
    • Site-wide: 476

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries

bioengineering more details view paper
  • Downloaded 670 times
  • Download rankings, all-time:
    • Site-wide: 69,599
    • In bioengineering: 1,366
  • Year to date:
    • Site-wide: 98,384
  • Since beginning of last month:
    • Site-wide: None

Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p

psychiatry and clinical psychology more details view paper
  • Downloaded 636 times
  • Download rankings, all-time:
    • Site-wide: 74,762
    • In psychiatry and clinical psychology: 403
  • Year to date:
    • Site-wide: 7,259
  • Since beginning of last month:
    • Site-wide: 138,870

SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility

genetics more details view paper
  • Downloaded 623 times
  • Download rankings, all-time:
    • Site-wide: 76,757
    • In genetics: 2,879
  • Year to date:
    • Site-wide: 206,087
  • Since beginning of last month:
    • Site-wide: 124,887

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

genomics more details view paper
  • Downloaded 605 times
  • Download rankings, all-time:
    • Site-wide: 79,472
    • In genomics: 5,458
  • Year to date:
    • Site-wide: 7,876
  • Since beginning of last month:
    • Site-wide: 51,010

Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

genetic and genomic medicine more details view paper
  • Downloaded 522 times
  • Download rankings, all-time:
    • Site-wide: 95,476
    • In genetic and genomic medicine: 911
  • Year to date:
    • Site-wide: 9,994
  • Since beginning of last month:
    • Site-wide: 12,614

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

genomics more details view paper
  • Downloaded 483 times
  • Download rankings, all-time:
    • Site-wide: 104,070
    • In genomics: 6,209
  • Year to date:
    • Site-wide: 182,499
  • Since beginning of last month:
    • Site-wide: 67,347

Genome-wide analysis of Structural Variants in Parkinson's Disease using Short-Read Sequencing data

genetics more details view paper
  • Downloaded 469 times
  • Download rankings, all-time:
    • Site-wide: 107,518
    • In genetics: None
  • Year to date:
    • Site-wide: 11,944
  • Since beginning of last month:
    • Site-wide: 10,192

CHD8 Suppression Impacts on Histone H3 Lysine 36 Trimethylation and Alters RNA Alternative Splicing.

genetics more details view paper
  • Downloaded 459 times
  • Download rankings, all-time:
    • Site-wide: 109,794
    • In genetics: 4,255
  • Year to date:
    • Site-wide: 91,575
  • Since beginning of last month:
    • Site-wide: 79,767

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.

developmental biology more details view paper
  • Downloaded 317 times
  • Download rankings, all-time:
    • Site-wide: 149,644
    • In developmental biology: 3,989
  • Year to date:
    • Site-wide: 108,521
  • Since beginning of last month:
    • Site-wide: 85,053

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

genomics more details view paper
  • Downloaded 309 times
  • Download rankings, all-time:
    • Site-wide: 152,018
    • In genomics: 8,323
  • Year to date:
    • Site-wide: 23,808
  • Since beginning of last month:
    • Site-wide: 87,322

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

genetics more details view paper
  • Downloaded 288 times
  • Download rankings, all-time:
    • Site-wide: 158,209
    • In genetics: 5,757
  • Year to date:
    • Site-wide: 142,871
  • Since beginning of last month:
    • Site-wide: 183,123

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