Rxivist logo

Author: Michael E. Talkowski

  • ORCiD: http://orcid.org/0000-0003-2889-0992
  • Most recently observed institution: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General

Rankings

  • All-time downloads: 80,280 (rank: 2,503 )
  • Categories:
    • bioengineering: 574 (rank: 9,412 (tie) )
    • bioinformatics: 4,120 (rank: 3,852 (tie) )
    • developmental biology: 232 (rank: 21,374 (tie) )
    • genetic and genomic medicine: 3,829 (rank: 1,062 )
    • genetics: 11,795 (rank: 1,457 )
    • genomics: 57,234 (rank: 183 )
    • neurology: 925 (rank: 2,034 (tie) )
    • neuroscience: 1,571 (rank: 19,565 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 25,376 times
  • Download rankings, all-time:
    • Site-wide: 375
    • In genomics: 11
  • Year to date:
    • Site-wide: 5,393
  • Since beginning of last month:
    • Site-wide: 5,084

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,374 times
  • Download rankings, all-time:
    • Site-wide: 982
    • In genomics: 61
  • Year to date:
    • Site-wide: 6,276
  • Since beginning of last month:
    • Site-wide: 15,158

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

genetics more details view paper
  • Downloaded 10,618 times
  • Download rankings, all-time:
    • Site-wide: 1,078
    • In genetics: 23
  • Year to date:
    • Site-wide: 38,669
  • Since beginning of last month:
    • Site-wide: 15,130

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

genomics more details view paper
  • Downloaded 4,608 times
  • Download rankings, all-time:
    • Site-wide: 3,140
    • In genomics: 292
  • Year to date:
    • Site-wide: 429
  • Since beginning of last month:
    • Site-wide: 1,015

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

bioinformatics more details view paper
  • Downloaded 2,889 times
  • Download rankings, all-time:
    • Site-wide: 6,058
    • In bioinformatics: 585
  • Year to date:
    • Site-wide: 28,127
  • Since beginning of last month:
    • Site-wide: 95,731

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 2,760 times
  • Download rankings, all-time:
    • Site-wide: 6,454
    • In genetic and genomic medicine: 29
  • Year to date:
    • Site-wide: 1,891
  • Since beginning of last month:
    • Site-wide: 7,195

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 2,634 times
  • Download rankings, all-time:
    • Site-wide: 6,932
    • In genomics: 685
  • Year to date:
    • Site-wide: 27,999
  • Since beginning of last month:
    • Site-wide: 96,354

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

genomics more details view paper
  • Downloaded 2,533 times
  • Download rankings, all-time:
    • Site-wide: 7,347
    • In genomics: 740
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 149,458

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 2,108 times
  • Download rankings, all-time:
    • Site-wide: 9,571
    • In genomics: 935
  • Year to date:
    • Site-wide: 1,939
  • Since beginning of last month:
    • Site-wide: 5,861

Indexcov: fast coverage quality control for whole-genome sequencing

genomics more details view paper
  • Downloaded 1,898 times
  • Download rankings, all-time:
    • Site-wide: 11,251
    • In genomics: 1,090
  • Year to date:
    • Site-wide: 111,844
  • Since beginning of last month:
    • Site-wide: 66,933

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

neuroscience more details view paper
  • Downloaded 1,571 times
  • Download rankings, all-time:
    • Site-wide: 14,883
    • In neuroscience: 1,614
  • Year to date:
    • Site-wide: 110,776
  • Since beginning of last month:
    • Site-wide: 95,348

Functional annotation of rare structural variation in the human brain

genomics more details view paper
  • Downloaded 1,291 times
  • Download rankings, all-time:
    • Site-wide: 20,074
    • In genomics: 1,844
  • Year to date:
    • Site-wide: 118,493
  • Since beginning of last month:
    • Site-wide: 81,529

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

genomics more details view paper
  • Downloaded 1,287 times
  • Download rankings, all-time:
    • Site-wide: 20,207
    • In genomics: 1,853
  • Year to date:
    • Site-wide: 50,670
  • Since beginning of last month:
    • Site-wide: 117,651

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

bioinformatics more details view paper
  • Downloaded 1,231 times
  • Download rankings, all-time:
    • Site-wide: 21,587
    • In bioinformatics: 2,411
  • Year to date:
    • Site-wide: 84,753
  • Since beginning of last month:
    • Site-wide: 43,152

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

genomics more details view paper
  • Downloaded 1,097 times
  • Download rankings, all-time:
    • Site-wide: 25,777
    • In genomics: 2,311
  • Year to date:
    • Site-wide: 66,069
  • Since beginning of last month:
    • Site-wide: 44,276

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

genomics more details view paper
  • Downloaded 1,093 times
  • Download rankings, all-time:
    • Site-wide: 25,919
    • In genomics: 2,316
  • Year to date:
    • Site-wide: 100,638
  • Since beginning of last month:
    • Site-wide: 19,820

The female protective effect against autism spectrum disorder

genetic and genomic medicine more details view paper
  • Downloaded 1,069 times
  • Download rankings, all-time:
    • Site-wide: 26,798
    • In genetic and genomic medicine: 136
  • Year to date:
    • Site-wide: 8,969
  • Since beginning of last month:
    • Site-wide: 22,765

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

neurology more details view paper
  • Downloaded 925 times
  • Download rankings, all-time:
    • Site-wide: 33,225
    • In neurology: 87
  • Year to date:
    • Site-wide: 240
  • Since beginning of last month:
    • Site-wide: 465

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

genomics more details view paper
  • Downloaded 824 times
  • Download rankings, all-time:
    • Site-wide: 39,295
    • In genomics: 3,156
  • Year to date:
    • Site-wide: 114,230
  • Since beginning of last month:
    • Site-wide: 68,287

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

genomics more details view paper
  • Downloaded 671 times
  • Download rankings, all-time:
    • Site-wide: 52,420
    • In genomics: 3,919
  • Year to date:
    • Site-wide: 99,322
  • Since beginning of last month:
    • Site-wide: 130,906

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

genetics more details view paper
  • Downloaded 593 times
  • Download rankings, all-time:
    • Site-wide: 61,696
    • In genetics: 2,583
  • Year to date:
    • Site-wide: 114,154
  • Since beginning of last month:
    • Site-wide: 97,109

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

bioengineering more details view paper
  • Downloaded 574 times
  • Download rankings, all-time:
    • Site-wide: 64,182
    • In bioengineering: 1,254
  • Year to date:
    • Site-wide: 102,717
  • Since beginning of last month:
    • Site-wide: 34,562

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

genomics more details view paper
  • Downloaded 440 times
  • Download rankings, all-time:
    • Site-wide: 87,096
    • In genomics: 5,558
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 142,058

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

genetics more details view paper
  • Downloaded 358 times
  • Download rankings, all-time:
    • Site-wide: 105,366
    • In genetics: 4,301
  • Year to date:
    • Site-wide: 51,514
  • Since beginning of last month:
    • Site-wide: 129,149

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

developmental biology more details view paper
  • Downloaded 232 times
  • Download rankings, all-time:
    • Site-wide: 138,768
    • In developmental biology: 3,745
  • Year to date:
    • Site-wide: 93,380
  • Since beginning of last month:
    • Site-wide: 91,350

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

genetics more details view paper
  • Downloaded 226 times
  • Download rankings, all-time:
    • Site-wide: 140,395
    • In genetics: 5,510
  • Year to date:
    • Site-wide: 136,178
  • Since beginning of last month:
    • Site-wide: 114,251

PanLingua

News