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Author: James S Ware

  • ORCiD: http://orcid.org/0000-0002-6110-5880
  • Most recently observed institution: National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK; Program in Medical and Population Genetics

Rankings

  • All-time downloads: 69,493 (rank: 2,880 )
  • Categories:
    • bioinformatics: 583 (rank: 28,314 (tie) )
    • cardiovascular medicine: 1,007 (rank: 687 (tie) )
    • genetic and genomic medicine: 2,262 (rank: 2,126 (tie) )
    • genetics: 5,550 (rank: 3,789 )
    • genomics: 60,091 (rank: 170 )

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: 375
    • In genomics: 11
  • Year to date:
    • Site-wide: 5,393
  • Since beginning of last month:
    • Site-wide: 5,084

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

genomics more details view paper
  • Downloaded 22,239 times
  • Download rankings, all-time:
    • Site-wide: 428
    • In genomics: 13
  • Year to date:
    • Site-wide: 53,075
  • Since beginning of last month:
    • Site-wide: 27,657

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 5,085 times
  • Download rankings, all-time:
    • Site-wide: 2,767
    • In genomics: 247
  • Year to date:
    • Site-wide: 74,075
  • Since beginning of last month:
    • Site-wide: 68,994

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

genomics more details view paper
  • Downloaded 3,264 times
  • Download rankings, all-time:
    • Site-wide: 5,081
    • In genomics: 488
  • Year to date:
    • Site-wide: 79,999
  • Since beginning of last month:
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

genetics more details view paper
  • Downloaded 2,110 times
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    • Site-wide: 9,553
    • In genetics: 385
  • Year to date:
    • Site-wide: 74,486
  • Since beginning of last month:
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Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
  • Downloaded 2,100 times
  • Download rankings, all-time:
    • Site-wide: 9,627
    • In genomics: 942
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 39,972

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

genetics more details view paper
  • Downloaded 1,771 times
  • Download rankings, all-time:
    • Site-wide: 12,413
    • In genetics: 520
  • Year to date:
    • Site-wide: 74,357
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    • Site-wide: 94,812

CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

genomics more details view paper
  • Downloaded 1,262 times
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    • Site-wide: 20,790
    • In genomics: 1,914
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 149,605

The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases

genetic and genomic medicine more details view paper
  • Downloaded 984 times
  • Download rankings, all-time:
    • Site-wide: 30,284
    • In genetic and genomic medicine: 152
  • Year to date:
    • Site-wide: 67,544
  • Since beginning of last month:
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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy

genetics more details view paper
  • Downloaded 777 times
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    • Site-wide: 42,730
    • In genetics: 1,816
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    • Site-wide: 28,607
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    • Site-wide: 96,663

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

genomics more details view paper
  • Downloaded 765 times
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    • Site-wide: 43,719
    • In genomics: 3,417
  • Year to date:
    • Site-wide: None
  • Since beginning of last month:
    • Site-wide: 149,997

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participants

genetic and genomic medicine more details view paper
  • Downloaded 606 times
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    • Site-wide: 59,970
    • In genetic and genomic medicine: 301
  • Year to date:
    • Site-wide: 18,924
  • Since beginning of last month:
    • Site-wide: 53,617

Genetic and environmental determinants of diastolic heart function

cardiovascular medicine more details view paper
  • Downloaded 592 times
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    • Site-wide: 61,823
    • In cardiovascular medicine: 113
  • Year to date:
    • Site-wide: 69,441
  • Since beginning of last month:
    • Site-wide: 36,884

Annotating high-impact 5'untranslated region variants with the UTRannotator

bioinformatics more details view paper
  • Downloaded 583 times
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    • Site-wide: 62,964
    • In bioinformatics: 6,089
  • Year to date:
    • Site-wide: 42,968
  • Since beginning of last month:
    • Site-wide: 107,815

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

genetics more details view paper
  • Downloaded 544 times
  • Download rankings, all-time:
    • Site-wide: 68,538
    • In genetics: 2,871
  • Year to date:
    • Site-wide: 86,361
  • Since beginning of last month:
    • Site-wide: 136,049

Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity

genetic and genomic medicine more details view paper
  • Downloaded 425 times
  • Download rankings, all-time:
    • Site-wide: 90,034
    • In genetic and genomic medicine: 475
  • Year to date:
    • Site-wide: 95,678
  • Since beginning of last month:
    • Site-wide: 109,936

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

genetics more details view paper
  • Downloaded 348 times
  • Download rankings, all-time:
    • Site-wide: 107,833
    • In genetics: 4,395
  • Year to date:
    • Site-wide: 92,149
  • Since beginning of last month:
    • Site-wide: 90,333

GENOME-WIDE ASSOCIATIONS OF AORTIC DISTENSIBILITY SUGGEST CAUSAL RELATIONSHIPS WITH AORTIC ANEURYSMS AND BRAIN WHITE MATTER HYPERINTENSITIES

cardiovascular medicine more details view paper
  • Downloaded 286 times
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    • Site-wide: 124,155
    • In cardiovascular medicine: 327
  • Year to date:
    • Site-wide: 35,311
  • Since beginning of last month:
    • Site-wide: 25,737

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

genetic and genomic medicine more details view paper
  • Downloaded 247 times
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    • Site-wide: 134,595
    • In genetic and genomic medicine: 809
  • Year to date:
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Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant

cardiovascular medicine more details view paper
  • Downloaded 129 times
  • Download rankings, all-time:
    • Site-wide: 161,558
    • In cardiovascular medicine: 550
  • Year to date:
    • Site-wide: 67,969
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