Author: Stephen S Rich
- ORCiD: http://orcid.org/0000-0003-3872-7793
- Most recently observed institution: University of Virginia
Rankings
- All-time downloads: 62,298 (rank: 2,083 )
- Categories:
- bioinformatics: 1,251 (rank: 11,190 (tie) )
- developmental biology: 963 (rank: 3,844 (tie) )
- epidemiology: 723 (rank: 10,595 (tie) )
- genetic and genomic medicine: 4,438 (rank: 130 )
- genetics: 27,623 (rank: 217 )
- genomics: 26,922 (rank: 330 )
- hematology: 378 (rank: 477 (tie) )
Downloads per author, site-wide
Preprints
Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies
bioinformatics more details view paperNo download data for this paper yet.
Recovery of trait heritability from whole genome sequence data
genetics more details view paper- Downloaded 11,356 times
- Download rankings, all-time:
- Site-wide: 625
- In genetics: 17
- Year to date:
- Site-wide: 2,178
- Since beginning of last month:
- Site-wide: 1,799
An open resource of structural variation for medical and population genetics
genomics more details view paper- Downloaded 10,889 times
- Download rankings, all-time:
- Site-wide: 665
- In genomics: 52
- Year to date:
- Site-wide: 7,655
- Since beginning of last month:
- Site-wide: 10,338
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
genomics more details view paper- Downloaded 8,033 times
- Download rankings, all-time:
- Site-wide: 989
- In genomics: 93
- Year to date:
- Site-wide: 1,349
- Since beginning of last month:
- Site-wide: 1,213
Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes
genomics more details view paper- Downloaded 2,773 times
- Download rankings, all-time:
- Site-wide: 4,291
- In genomics: 494
- Year to date:
- Site-wide: 6,914
- Since beginning of last month:
- Site-wide: 6,824
Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
genetics more details view paper- Downloaded 2,264 times
- Download rankings, all-time:
- Site-wide: 5,822
- In genetics: 278
- Year to date:
- Site-wide: 4,183
- Since beginning of last month:
- Site-wide: 2,485
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals
genomics more details view paper- Downloaded 2,088 times
- Download rankings, all-time:
- Site-wide: 6,517
- In genomics: 742
- Year to date:
- Site-wide: 110,527
- Since beginning of last month:
- Site-wide: 90,607
The Polygenic and Monogenic Basis of Blood Traits and Diseases
genetic and genomic medicine more details view paper- Downloaded 1,949 times
- Download rankings, all-time:
- Site-wide: 7,220
- In genetic and genomic medicine: 20
- Year to date:
- Site-wide: 22,638
- Since beginning of last month:
- Site-wide: 17,193
Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes
genetics more details view paper- Downloaded 1,826 times
- Download rankings, all-time:
- Site-wide: 7,952
- In genetics: 387
- Year to date:
- Site-wide: None
- Since beginning of last month:
- Site-wide: None
Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism
genetics more details view paper- Downloaded 1,704 times
- Download rankings, all-time:
- Site-wide: 8,858
- In genetics: 440
- Year to date:
- Site-wide: 54,830
- Since beginning of last month:
- Site-wide: 52,487
Fine-mapping identifies causal variants for RA and T1D in DNASE1L3, SIRPG, MEG3, TNFAIP3 and CD28/CTLA4 loci
genetics more details view paper- Downloaded 1,433 times
- Download rankings, all-time:
- Site-wide: 11,439
- In genetics: 570
- Year to date:
- Site-wide: 108,444
- Since beginning of last month:
- Site-wide: None
Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit
bioinformatics more details view paper- Downloaded 1,251 times
- Download rankings, all-time:
- Site-wide: 14,006
- In bioinformatics: 1,725
- Year to date:
- Site-wide: 1,286
- Since beginning of last month:
- Site-wide: 690
Population sequencing data reveal a compendium of mutational processes in human germline
genetics more details view paper- Downloaded 1,235 times
- Download rankings, all-time:
- Site-wide: 14,318
- In genetics: 736
- Year to date:
- Site-wide: 19,167
- Since beginning of last month:
- Site-wide: 9,732
Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen
genetics more details view paper- Downloaded 1,160 times
- Download rankings, all-time:
- Site-wide: 15,728
- In genetics: 802
- Year to date:
- Site-wide: 89,027
- Since beginning of last month:
- Site-wide: 74,415
Using genotype data to distinguish pleiotropy from heterogeneity: deciphering coheritability in autoimmune and neuropsychiatric diseases
genomics more details view paper- Downloaded 1,040 times
- Download rankings, all-time:
- Site-wide: 18,547
- In genomics: 1,912
- Year to date:
- Site-wide: 84,095
- Since beginning of last month:
- Site-wide: 75,171
Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing
genetics more details view paper- Downloaded 1,026 times
- Download rankings, all-time:
- Site-wide: 18,944
- In genetics: 945
- Year to date:
- Site-wide: 6,237
- Since beginning of last month:
- Site-wide: 5,887
Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
genetic and genomic medicine more details view paper- Downloaded 980 times
- Download rankings, all-time:
- Site-wide: 20,217
- In genetic and genomic medicine: 61
- Year to date:
- Site-wide: 6,473
- Since beginning of last month:
- Site-wide: 6,351
The maternal-fetal interface of successful pregnancies and impact of fetal sex using single cell sequencing
developmental biology more details view paper- Downloaded 963 times
- Download rankings, all-time:
- Site-wide: 20,694
- In developmental biology: 378
- Year to date:
- Site-wide: 17,982
- Since beginning of last month:
- Site-wide: 26,785
Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies
genetics more details view paper- Downloaded 829 times
- Download rankings, all-time:
- Site-wide: 25,654
- In genetics: 1,273
- Year to date:
- Site-wide: 90,489
- Since beginning of last month:
- Site-wide: 92,978
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
genetic and genomic medicine more details view paper- Downloaded 765 times
- Download rankings, all-time:
- Site-wide: 28,697
- In genetic and genomic medicine: 82
- Year to date:
- Site-wide: 24,769
- Since beginning of last month:
- Site-wide: 22,107
Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease
genomics more details view paper- Downloaded 739 times
- Download rankings, all-time:
- Site-wide: 30,068
- In genomics: 2,749
- Year to date:
- Site-wide: 48,816
- Since beginning of last month:
- Site-wide: 58,792
The Trans-Ancestral Genomic Architecture of Glycaemic Traits
genetics more details view paper- Downloaded 711 times
- Download rankings, all-time:
- Site-wide: 31,775
- In genetics: 1,578
- Year to date:
- Site-wide: 14,335
- Since beginning of last month:
- Site-wide: 10,256
Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies
genetics more details view paper- Downloaded 709 times
- Download rankings, all-time:
- Site-wide: 31,905
- In genetics: 1,590
- Year to date:
- Site-wide: 104,972
- Since beginning of last month:
- Site-wide: 78,988
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations
genomics more details view paper- Downloaded 660 times
- Download rankings, all-time:
- Site-wide: 35,147
- In genomics: 3,075
- Year to date:
- Site-wide: 51,674
- Since beginning of last month:
- Site-wide: 65,315
Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function
genetics more details view paper- Downloaded 597 times
- Download rankings, all-time:
- Site-wide: 39,941
- In genetics: 1,934
- Year to date:
- Site-wide: 110,101
- Since beginning of last month:
- Site-wide: None
Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes
genetics more details view paper- Downloaded 504 times
- Download rankings, all-time:
- Site-wide: 49,173
- In genetics: 2,346
- Year to date:
- Site-wide: 3,601
- Since beginning of last month:
- Site-wide: None
Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile
genomics more details view paper- Downloaded 501 times
- Download rankings, all-time:
- Site-wide: 49,473
- In genomics: 3,916
- Year to date:
- Site-wide: 107,853
- Since beginning of last month:
- Site-wide: 95,163
Genome-Wide Association Study Reveals Genetic Link Between Diarrhea-Associated Entamoeba histolytica Infection And Inflammatory Bowel Disease
genetics more details view paper- Downloaded 475 times
- Download rankings, all-time:
- Site-wide: 52,597
- In genetics: 2,496
- Year to date:
- Site-wide: 89,560
- Since beginning of last month:
- Site-wide: 62,899
Meta-analysis of exome array data identifies six novel genetic loci for lung function
genetics more details view paper- Downloaded 474 times
- Download rankings, all-time:
- Site-wide: 52,696
- In genetics: 2,503
- Year to date:
- Site-wide: 88,353
- Since beginning of last month:
- Site-wide: 74,694
Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function
epidemiology more details view paper- Downloaded 433 times
- Download rankings, all-time:
- Site-wide: 58,111
- In epidemiology: 2,473
- Year to date:
- Site-wide: 94,763
- Since beginning of last month:
- Site-wide: 91,734
Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program
genetics more details view paper- Downloaded 426 times
- Download rankings, all-time:
- Site-wide: 59,014
- In genetics: 2,800
- Year to date:
- Site-wide: 62,768
- Since beginning of last month:
- Site-wide: 61,412
Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program
hematology more details view paper- Downloaded 378 times
- Download rankings, all-time:
- Site-wide: 66,477
- In hematology: 40
- Year to date:
- Site-wide: 4,550
- Since beginning of last month:
- Site-wide: 4,163
Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.
genetics more details view paper- Downloaded 374 times
- Download rankings, all-time:
- Site-wide: 67,092
- In genetics: 3,139
- Year to date:
- Site-wide: 66,766
- Since beginning of last month:
- Site-wide: 79,362
Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels
epidemiology more details view paper- Downloaded 290 times
- Download rankings, all-time:
- Site-wide: 82,356
- In epidemiology: 3,367
- Year to date:
- Site-wide: 62,433
- Since beginning of last month:
- Site-wide: 48,848
A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program
genetics more details view paper- Downloaded 286 times
- Download rankings, all-time:
- Site-wide: 83,176
- In genetics: 3,833
- Year to date:
- Site-wide: 27,325
- Since beginning of last month:
- Site-wide: 38,146
Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program
genetic and genomic medicine more details view paper- Downloaded 271 times
- Download rankings, all-time:
- Site-wide: 86,381
- In genetic and genomic medicine: 290
- Year to date:
- Site-wide: 20,802
- Since beginning of last month:
- Site-wide: 18,038
Genome-wide association study of cryptosporidiosis in infants implicates PRKCA
genetics more details view paper- Downloaded 234 times
- Download rankings, all-time:
- Site-wide: 94,335
- In genetics: 4,303
- Year to date:
- Site-wide: 112,679
- Since beginning of last month:
- Site-wide: 93,825
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure
genomics more details view paper- Downloaded 199 times
- Download rankings, all-time:
- Site-wide: 101,916
- In genomics: 6,014
- Year to date:
- Site-wide: 99,026
- Since beginning of last month:
- Site-wide: 100,787
Transcriptional survey of peripheral blood links lower oxygen saturation during sleep with reduced expressions of CD1D and RAB20 that is reversed by CPAP therapy
genetic and genomic medicine more details view paper- Downloaded 177 times
- Download rankings, all-time:
- Site-wide: 106,485
- In genetic and genomic medicine: 434
- Year to date:
- Site-wide: 112,966
- Since beginning of last month:
- Site-wide: 87,302
Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program
genetic and genomic medicine more details view paper- Downloaded 148 times
- Download rankings, all-time:
- Site-wide: 112,344
- In genetic and genomic medicine: 487
- Year to date:
- Site-wide: 6,751
- Since beginning of last month:
- Site-wide: 12,553
BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion
genetic and genomic medicine more details view paper- Downloaded 148 times
- Download rankings, all-time:
- Site-wide: 112,352
- In genetic and genomic medicine: 486
- Year to date:
- Site-wide: 6,765
- Since beginning of last month:
- Site-wide: 9,924
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