Author: David N. Cooper
- ORCiD: http://orcid.org/0000-0002-8943-8484
- Most recently observed institution: Institute of Medical Genetics, School of Medicine, Cardiff University
Rankings
- All-time downloads: 34,428 (rank: 4,108 )
- Categories:
- bioinformatics: 4,287 (rank: 2,686 (tie) )
- gastroenterology: 160 (rank: 1,262 (tie) )
- genetic and genomic medicine: 586 (rank: 2,945 )
- genetics: 5,616 (rank: 3,392 )
- genomics: 23,779 (rank: 400 )
Downloads per author, site-wide
Preprints
Analysis of protein-coding genetic variation in 60,706 humans
genomics more details view paper- Downloaded 21,936 times
- Download rankings, all-time:
- Site-wide: 296
- In genomics: 11
- Year to date:
- Site-wide: 51,933
- Since beginning of last month:
- Site-wide: None
MutPred2: inferring the molecular and phenotypic impact of amino acid variants
bioinformatics more details view paper- Downloaded 3,767 times
- Download rankings, all-time:
- Site-wide: 2,785
- In bioinformatics: 272
- Year to date:
- Site-wide: 14,857
- Since beginning of last month:
- Site-wide: 12,657
AMELIE accelerates Mendelian patient diagnosis directly from the primary literature
genetics more details view paper- Downloaded 2,072 times
- Download rankings, all-time:
- Site-wide: 6,628
- In genetics: 328
- Year to date:
- Site-wide: 76,101
- Since beginning of last month:
- Site-wide: 55,551
Developmental gene expression differences between humans and mammalian models
genomics more details view paper- Downloaded 932 times
- Download rankings, all-time:
- Site-wide: 21,861
- In genomics: 2,179
- Year to date:
- Site-wide: 38,767
- Since beginning of last month:
- Site-wide: None
AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature
genetics more details view paper- Downloaded 701 times
- Download rankings, all-time:
- Site-wide: 32,575
- In genetics: 1,616
- Year to date:
- Site-wide: 47,380
- Since beginning of last month:
- Site-wide: 80,031
S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing
genomics more details view paper- Downloaded 620 times
- Download rankings, all-time:
- Site-wide: 38,341
- In genomics: 3,265
- Year to date:
- Site-wide: 43,170
- Since beginning of last month:
- Site-wide: 34,147
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
genetics more details view paper- Downloaded 593 times
- Download rankings, all-time:
- Site-wide: 40,480
- In genetics: 1,954
- Year to date:
- Site-wide: 62,038
- Since beginning of last month:
- Site-wide: 33,397
RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease
bioinformatics more details view paper- Downloaded 520 times
- Download rankings, all-time:
- Site-wide: 47,557
- In bioinformatics: 4,994
- Year to date:
- Site-wide: 59,211
- Since beginning of last month:
- Site-wide: 45,488
First estimation of the scale of canonical 5' splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications
genetics more details view paper- Downloaded 462 times
- Download rankings, all-time:
- Site-wide: 54,446
- In genetics: 2,580
- Year to date:
- Site-wide: 71,598
- Since beginning of last month:
- Site-wide: 80,212
AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature
genetics more details view paper- Downloaded 454 times
- Download rankings, all-time:
- Site-wide: 55,476
- In genetics: 2,627
- Year to date:
- Site-wide: 53,006
- Since beginning of last month:
- Site-wide: 39,413
The experimentally obtained functional impact assessments of GT>GC 5' splice site variants differ markedly from those predicted
genetics more details view paper- Downloaded 384 times
- Download rankings, all-time:
- Site-wide: 65,643
- In genetics: 3,084
- Year to date:
- Site-wide: 27,528
- Since beginning of last month:
- Site-wide: 34,328
Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients
genetic and genomic medicine more details view paper- Downloaded 356 times
- Download rankings, all-time:
- Site-wide: 70,456
- In genetic and genomic medicine: 213
- Year to date:
- Site-wide: 21,494
- Since beginning of last month:
- Site-wide: 15,849
Identification of Discriminative Gene-level and Protein-level Features Associated with Gain-of-Function and Loss-of-Function Mutations
genetics more details view paper- Downloaded 348 times
- Download rankings, all-time:
- Site-wide: 71,678
- In genetics: 3,350
- Year to date:
- Site-wide: 2,193
- Since beginning of last month:
- Site-wide: None
PIVOTAL: Prioritizing variants of uncertain significance with spatial genomic patterns in the 3D proteome
genomics more details view paper- Downloaded 291 times
- Download rankings, all-time:
- Site-wide: 82,540
- In genomics: 5,356
- Year to date:
- Site-wide: 23,332
- Since beginning of last month:
- Site-wide: 21,313
Genetic analysis of the STIM1 gene in chronic pancreatitis
genetics more details view paper- Downloaded 256 times
- Download rankings, all-time:
- Site-wide: 90,080
- In genetics: 4,105
- Year to date:
- Site-wide: 70,879
- Since beginning of last month:
- Site-wide: 61,645
5' splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity
genetics more details view paper- Downloaded 177 times
- Download rankings, all-time:
- Site-wide: 106,873
- In genetics: 4,758
- Year to date:
- Site-wide: 103,157
- Since beginning of last month:
- Site-wide: 77,803
RNA secondary structure mediated by Alu insertion as a novel disease-causing mechanism
genetics more details view paper- Downloaded 169 times
- Download rankings, all-time:
- Site-wide: 108,525
- In genetics: 4,812
- Year to date:
- Site-wide: 104,885
- Since beginning of last month:
- Site-wide: 97,846
Role of the common PRSS1-PRSS2 haplotype in alcoholic and non-alcoholic chronic pancreatitis: meta- and re-analyses
gastroenterology more details view paper- Downloaded 160 times
- Download rankings, all-time:
- Site-wide: 110,412
- In gastroenterology: 126
- Year to date:
- Site-wide: 46,167
- Since beginning of last month:
- Site-wide: 102,313
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year
genetic and genomic medicine more details view paper- Downloaded 138 times
- Download rankings, all-time:
- Site-wide: 114,495
- In genetic and genomic medicine: 499
- Year to date:
- Site-wide: 8,137
- Since beginning of last month:
- Site-wide: 32,369
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis
genetic and genomic medicine more details view paper- Downloaded 92 times
- Download rankings, all-time:
- Site-wide: 122,721
- In genetic and genomic medicine: 564
- Year to date:
- Site-wide: 67,489
- Since beginning of last month:
- Site-wide: 73,156
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