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Author: Dennis Lal

Rankings

  • All-time downloads: 21,039 (rank: 11,021 )
  • Categories:
    • bioinformatics: 308 (rank: 38,340 (tie) )
    • genetic and genomic medicine: 3,929 (rank: 1,008 )
    • genetics: 15,630 (rank: 990 (tie) )
    • neurology: 818 (rank: 2,058 (tie) )
    • neuroscience: 354 (rank: 69,106 (tie) )

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Preprints

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
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    • Site-wide: 6,638
    • In genetic and genomic medicine: 30
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    • Site-wide: 1,382
  • Since beginning of last month:
    • Site-wide: 6,980

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,109 times
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    • Site-wide: 9,193
    • In genetics: 380
  • Year to date:
    • Site-wide: 83,523
  • Since beginning of last month:
    • Site-wide: 142,433

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 2,084 times
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    • Site-wide: 9,360
    • In genetics: 384
  • Year to date:
    • Site-wide: 59,984
  • Since beginning of last month:
    • Site-wide: 75,023

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

genetics more details view paper
  • Downloaded 1,987 times
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    • Site-wide: 10,077
    • In genetics: 412
  • Year to date:
    • Site-wide: 13,563
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    • Site-wide: 16,708

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

genetics more details view paper
  • Downloaded 1,764 times
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    • Site-wide: 12,040
    • In genetics: 514
  • Year to date:
    • Site-wide: 80,186
  • Since beginning of last month:
    • Site-wide: 49,985

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effects

genetics more details view paper
  • Downloaded 1,477 times
  • Download rankings, all-time:
    • Site-wide: 15,819
    • In genetics: 697
  • Year to date:
    • Site-wide: 49,865
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    • Site-wide: 67,994

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

genetics more details view paper
  • Downloaded 999 times
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    • Site-wide: 28,567
    • In genetics: 1,259
  • Year to date:
    • Site-wide: 26,847
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    • Site-wide: 21,241

Paternal-age-related de novo mutations and risk for five disorders

genetics more details view paper
  • Downloaded 924 times
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    • Site-wide: 32,060
    • In genetics: 1,406
  • Year to date:
    • Site-wide: 132,597
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    • Site-wide: 148,842

Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 701 times
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    • Site-wide: 47,632
    • In genetics: 2,045
  • Year to date:
    • Site-wide: 111,805
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Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

genetics more details view paper
  • Downloaded 655 times
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    • Site-wide: 52,322
    • In genetics: 2,225
  • Year to date:
    • Site-wide: 124,235
  • Since beginning of last month:
    • Site-wide: 107,329

Genome-wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients

genetic and genomic medicine more details view paper
  • Downloaded 648 times
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    • Site-wide: 53,083
    • In genetic and genomic medicine: 247
  • Year to date:
    • Site-wide: 26,341
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    • Site-wide: 18,772

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

genetics more details view paper
  • Downloaded 638 times
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    • Site-wide: 54,207
    • In genetics: 2,308
  • Year to date:
    • Site-wide: 114,103
  • Since beginning of last month:
    • Site-wide: 130,375

Shared genetic underpinnings between genetic generalized epilepsy and background EEG oscillations

genetics more details view paper
  • Downloaded 596 times
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    • Site-wide: 59,166
    • In genetics: 2,514
  • Year to date:
    • Site-wide: 47,337
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    • Site-wide: 55,070

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

neurology more details view paper
  • Downloaded 545 times
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    • Site-wide: 66,068
    • In neurology: 184
  • Year to date:
    • Site-wide: 13,942
  • Since beginning of last month:
    • Site-wide: 19,453

The role of sodium channels in sudden unexpected death in pediatrics

genetics more details view paper
  • Downloaded 501 times
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    • Site-wide: 72,906
    • In genetics: 3,095
  • Year to date:
    • Site-wide: 116,878
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    • Site-wide: 140,232

Duplications at 19q13.33 in patients with neurodevelopmental disorders

genetics more details view paper
  • Downloaded 437 times
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    • Site-wide: 84,623
    • In genetics: 3,553
  • Year to date:
    • Site-wide: 152,720
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    • Site-wide: 145,433

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

genetics more details view paper
  • Downloaded 389 times
  • Download rankings, all-time:
    • Site-wide: 94,750
    • In genetics: 3,942
  • Year to date:
    • Site-wide: 145,232
  • Since beginning of last month:
    • Site-wide: 131,970

Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

genetics more details view paper
  • Downloaded 369 times
  • Download rankings, all-time:
    • Site-wide: 99,218
    • In genetics: 4,112
  • Year to date:
    • Site-wide: 155,516
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    • Site-wide: 160,711

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability:A systematic review and meta-analysis

genetic and genomic medicine more details view paper
  • Downloaded 369 times
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    • Site-wide: 99,312
    • In genetic and genomic medicine: 526
  • Year to date:
    • Site-wide: 120,165
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    • Site-wide: 132,819

Altered Relationship between Soluble TREM2 and Inflammatory Markers in Young Adults with Down Syndrome

neuroscience more details view paper
  • Downloaded 354 times
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    • Site-wide: 102,938
    • In neuroscience: 15,335
  • Year to date:
    • Site-wide: 100,751
  • Since beginning of last month:
    • Site-wide: 80,236

SimText: A text mining framework for interactive analysis and visualization of similarities among biomedical entities

bioinformatics more details view paper
  • Downloaded 308 times
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    • Site-wide: 114,445
    • In bioinformatics: 9,437
  • Year to date:
    • Site-wide: 93,327
  • Since beginning of last month:
    • Site-wide: 109,598

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

genetic and genomic medicine more details view paper
  • Downloaded 282 times
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    • Site-wide: 121,342
    • In genetic and genomic medicine: 696
  • Year to date:
    • Site-wide: 37,379
  • Since beginning of last month:
    • Site-wide: 32,803

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

neurology more details view paper
  • Downloaded 273 times
  • Download rankings, all-time:
    • Site-wide: 123,801
    • In neurology: 520
  • Year to date:
    • Site-wide: 39,169
  • Since beginning of last month:
    • Site-wide: 23,294

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