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78 peer-reviewed articles • 23,852 peer-reviewed citations • Sorted by year • Download PDF (PDF by citations)
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1Interpreting Copy Number Variation in Thoracic Aortic Aneurysm and Dissection
JACC: Case Reports, 2025, 30, 102973
0.22Citations (PDF)
2The Somatic Mosaicism across Human Tissues Network
Nature, 2025, 643, 47-59
31.866Citations (PDF)
3Protein-altering variants at copy number-variable regions influence diverse human phenotypes
Nature Genetics, 2024, 56, 569-578
14.241Citations (PDF)
4Genetic drivers and cellular selection of female mosaic X chromosome loss
Nature, 2024, 631, 134-141
31.860Citations (PDF)
5A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation
Nature Genetics, 2024, 56, 1583-1591
14.219Citations (PDF)
6Identifying genetic variants that influence the abundance of cell states in single-cell data
Nature Genetics, 2024, 56, 1-10
14.221Citations (PDF)
7Clonal haematopoiesis and risk of chronic liver disease
Nature, 2023, 616, 747-754
31.8213Citations (PDF)
8Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer
Cell, 2023, 186, 3659-3673.e23
23.846Citations (PDF)
9A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
Nature Genetics, 2023, 55, 1901-1911
14.223Citations (PDF)
10A spectrum of recessiveness among Mendelian disease variants in UK Biobank
American Journal of Human Genetics, 2022, 109, 1298-1307
4.559Citations (PDF)
11Genome-wide mapping of somatic mutation rates uncovers drivers of cancer
Nature Biotechnology, 2022, 40, 1634-1643
21.479Citations (PDF)
12Incorporating family history of disease improves polygenic risk scores in diverse populations
Cell Genomics, 2022, 2, 100152
3.647Citations (PDF)
13Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
Scientific Reports, 2022, 12, 1-15
2.74Citations (PDF)
14Haplotype-aware analysis of somatic copy number variations from single-cell transcriptomes
Nature Biotechnology, 2022, 41, 417-426
21.4176Citations (PDF)
15Influences of rare copy-number variation on human complex traits
Cell, 2022, 185, 4233-4248.e27
23.857Citations (PDF)
16Large mosaic copy number variations confer autism risk
Nature Neuroscience, 2021, 24, 197-203
11.558Citations (PDF)
17Estimating the effective sample size in association studies of quantitative traits.
G3: Genes, Genomes, Genetics, 2021
1.427Citations (PDF)
18A model and test for coordinated polygenic epistasis in complex traits
Proceedings of the National Academy of Sciences of the United States of America, 2021, 118, e1922305118
5.335Citations (PDF)
19Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Nature Medicine, 2021, 27, 1012-1024
25.8190Citations (PDF)
20GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health
Nature Communications, 2021, 12, 1-6
11.045Citations (PDF)
21Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
Nature Genetics, 2021, 53, 1260-1269
14.2306Citations (PDF)
22Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
Science, 2021, 373, 1499-1505
26.5181Citations (PDF)
23Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets
Nature Communications, 2021, 12, 1-11
11.0142Citations (PDF)
24Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability
Human Molecular Genetics, 2020, 29, 1057-1067
2.121Citations (PDF)
25Chromosomal alterations among age-related haematopoietic clones in Japan
Nature, 2020, 584, 130-135
31.8157Citations (PDF)
26Monogenic and polygenic inheritance become instruments for clonal selection
Nature, 2020, 584, 136-141
31.8224Citations (PDF)
27Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes
PLoS Genetics, 2020, 16, e1009078
2.218Citations (PDF)
28GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation
Nature Communications, 2019, 10, 1-10
11.094Citations (PDF)
29Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Nature Genetics, 2019, 51, 804-814
14.2609Citations (PDF)
30Genes with High Network Connectivity Are Enriched for Disease Heritability
American Journal of Human Genetics, 2019, 104, 896-913
4.567Citations (PDF)
31Efficient cross-trait penalized regression increases prediction accuracy in large cohorts using secondary phenotypes
Nature Communications, 2019, 10, 1-11
11.069Citations (PDF)
32Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
Nature Communications, 2019, 10, 1-10
11.0161Citations (PDF)
33Genetic predisposition to mosaic Y chromosome loss in blood
Nature, 2019, 575, 652-657
31.8346Citations (PDF)
34Fast, sensitive and accurate integration of single-cell data with Harmony
Nature Methods, 2019, 16, 1289-1296
14.110,592Citations (PDF)
35Leveraging Polygenic Functional Enrichment to Improve GWAS Power
American Journal of Human Genetics, 2019, 104, 65-75
4.5978Citations (PDF)
36Estimating cross-population genetic correlations of causal effect sizes
Genetic Epidemiology, 2019, 43, 180-188
2.589Citations (PDF)
37Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
Nature Genetics, 2018, 50, 621-629
14.21,211Citations (PDF)
38Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations
Nature Genetics, 2018, 50, 1600-1607
14.2194Citations (PDF)
39Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
Nature Genetics, 2018, 50, 1483-1493
14.276Citations (PDF)
40A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases
Nature Genetics, 2018, 50, 857-864
14.2255Citations (PDF)
41Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits
Nature Genetics, 2018, 50, 1041-1047
14.2194Citations (PDF)
42Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Nature, 2018, 559, 350-355
31.8433Citations (PDF)
43Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Nature Genetics, 2017, 49, 834-841
14.2555Citations (PDF)
44Stepwise Distributed Open Innovation Contests for Software Development: Acceleration of Genome-Wide Association Analysis.
GigaScience, 2017, 6, 1-10
2.524Citations (PDF)
45Mixed Model Association with Family-Biased Case-Control Ascertainment
American Journal of Human Genetics, 2017, 100, 31-39
4.519Citations (PDF)
46Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection
Nature Genetics, 2017, 49, 1421-1427
14.2609Citations (PDF)
47Multiethnic polygenic risk scores improve risk prediction in diverse populations
Genetic Epidemiology, 2017, 41, 811-823
2.5329Citations (PDF)
48Heritability of Atrial Fibrillation
Circulation: Cardiovascular Genetics, 2017
3.7110Citations (PDF)
49Physical and neurobehavioral determinants of reproductive onset and success
Nature Genetics, 2016, 48, 617-623
14.2182Citations (PDF)
50Genome-wide associations for birth weight and correlations with adult disease
Nature, 2016, 538, 248-252
31.8490Citations (PDF)
51Next-generation genotype imputation service and methods
Nature Genetics, 2016, 48, 1284-1287
14.24,236Citations (PDF)
52Population Structure of UK Biobank and Ancient Eurasians Reveals Adaptation at Genes Influencing Blood Pressure
American Journal of Human Genetics, 2016, 99, 1130-1139
4.563Citations (PDF)
53A Robust Example of Collider Bias in a Genetic Association Study
American Journal of Human Genetics, 2016, 98, 392-393
4.5118Citations (PDF)
54Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
American Journal of Human Genetics, 2016, 98, 456-472
4.5424Citations (PDF)
55Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes
PLoS Genetics, 2015, 11, e1005550
2.257Citations (PDF)
56Mixed Model with Correction for Case-Control Ascertainment Increases Association Power
American Journal of Human Genetics, 2015, 96, 720-730
4.568Citations (PDF)
57Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
American Journal of Human Genetics, 2015, 97, 576-592
4.51,389Citations (PDF)
58Partitioning heritability by functional annotation using genome-wide association summary statistics
Nature Genetics, 2015, 47, 1228-1235
14.22,937Citations (PDF)
59An atlas of genetic correlations across human diseases and traits
Nature Genetics, 2015, 47, 1236-1241
14.24,600Citations (PDF)
60Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis
Nature Genetics, 2015, 47, 1385-1392
14.2518Citations (PDF)
61Two-Variance-Component Model Improves Genetic Prediction in Family Datasets
American Journal of Human Genetics, 2015, 97, 677-690
4.528Citations (PDF)
62Reconstructing Austronesian population history in Island Southeast Asia
Nature Communications, 2014, 5, 1-7
11.0191Citations (PDF)
63Ancient west Eurasian ancestry in southern and eastern Africa
Proceedings of the National Academy of Sciences of the United States of America, 2014, 111, 2632-2637
5.3280Citations (PDF)
64Genetic Evidence for Recent Population Mixture in India
American Journal of Human Genetics, 2013, 93, 422-438
4.5322Citations (PDF)
65Inferring Admixture Histories of Human Populations Using Linkage Disequilibrium
Genetics, 2013, 193, 1233-1254
3.3542Citations (PDF)
66Efficient moment-based inference of admixture parameters and sources of gene flow.
Molecular Biology and Evolution, 2013, 30, 1788-802
3.1135Citations (PDF)
67Prize-based contests can provide solutions to computational biology problems
Nature Biotechnology, 2013, 31, 108-111
21.4126Citations (PDF)
68Reconstructing Roma History from Genome-Wide Data
PLoS ONE, 2013, 8, e58633
1.568Citations (PDF)
69Assessment of Chemical Mixtures and Groundwater Effects on Daphnia magna Transcriptomics
Environmental Science & Technology, 2012, 46, 42-50
8.728Citations (PDF)
70Building Quantitative Prediction Models for Tissue Residue of Two Explosives Compounds in Earthworms from Microarray Gene Expression Data
Environmental Science & Technology, 2012, 46, 19-26
8.713Citations (PDF)
71Phenotype Prediction Using Regularized Regression on Genetic Data in the DREAM5 Systems Genetics B Challenge
PLoS ONE, 2011, 6, e29095
1.516Citations (PDF)
72The lingering effects of Neanderthal introgression on human complex traits.
ELife, 0
1.044Citations (PDF)
73Plasma Proteins Invariant to Diet in Celiac Disease: Results From a Proteomics Study on the UK Biobank
Gastro Hep Advances, 0, 5, 100803
1.21Citations (PDF)
74Insights into DNA repeat expansions among 900,000 biobank participants
Nature, 0, 650, 1-10
31.818Citations (PDF)
75Human and bacterial genetic variation shape oral microbiomes and health
Nature, 0, 651, 1-11
31.814Citations (PDF)
76The DNA virome varies with human genes and environments.
Nature, 0, 653, 1099-1109
31.85Citations (PDF)
77Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.
Nature Genetics, 0, 58, 1308-1319
14.24Citations (PDF)
78Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection.
Nature Genetics, 0, 58, 2361-2370
14.21Citations (PDF)