Genes with differential expression across ancestries are enriched in ancestry-specific disease effects likely due to gene-by-environment interactions Am J Hum Genet. 2024 Oct 03; 111(10):2117-2128. . View in PubMed

Pervasive findings of directional selection realize the promise of ancient DNA to elucidate human adaptation bioRxiv. 2024 Sep 15. . View in PubMed

Rhinovirus infection of airway epithelial cells uncovers the non-ciliated subset as a likely driver of genetic risk to childhood-onset asthma Cell Genom. 2024 Sep 11; 4(9):100636. . View in PubMed

Inferring causal cell types of human diseases and risk variants from candidate regulatory elements medRxiv. 2024 May 18. . View in PubMed

Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk medRxiv. 2024 Apr 16. . View in PubMed

A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children Cell Genom. 2024 Apr 10; 4(4):100526. . View in PubMed

Vocal learning-associated convergent evolution in mammalian proteins and regulatory elements Science. 2024 Mar 29; 383(6690):eabn3263. . View in PubMed

Genome-wide classification of epigenetic activity reveals regions of enriched heritability in immune-related traits Cell Genom. 2024 Mar 13; 4(3):100508. . View in PubMed

Rhinovirus infection of airway epithelial cells uncovers the non-ciliated subset as a likely driver of genetic susceptibility to childhood-onset asthma medRxiv. 2024 Feb 06. . View in PubMed

Genome-wide classification of epigenetic activity reveals regions of enriched heritability in immune-related traits Cell Genom. 2024 Jan 10; 4(1):100469. . View in PubMed

RPA3-UMAD1 rs12702634 and rheumatoid arthritis-associated interstitial lung disease in European ancestry Rheumatol Adv Pract. 2024; 8(2):rkae059. . View in PubMed

Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection Res Sq. 2023 Dec 15. . View in PubMed

Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection medRxiv. 2023 Dec 04. . View in PubMed

Ancestry-specific regulatory and disease architectures are likely due to cell-type-specific gene-by-environment interactions medRxiv. 2023 Oct 21. . View in PubMed

A scalable variational approach to characterize pleiotropic components across thousands of human diseases and complex traits using GWAS summary statistics medRxiv. 2023 Mar 29. . View in PubMed

Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease bioRxiv. 2023 Mar 10. . View in PubMed

Relating enhancer genetic variation across mammals to complex phenotypes using machine learning Science. 2023 04 28; 380(6643):eabm7993. . View in PubMed

A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics Am J Hum Genet. 2023 11 02; 110(11):1863-1874. . View in PubMed

Integrating gene annotation with orthology inference at scale Science. 2023 04 28; 380(6643):eabn3107. . View in PubMed

Leveraging base-pair mammalian constraint to understand genetic variation and human disease Science. 2023 04 28; 380(6643):eabn2937. . View in PubMed

Three-dimensional genome rewiring in loci with human accelerated regions Science. 2023 04 28; 380(6643):eabm1696. . View in PubMed

Evolutionary constraint and innovation across hundreds of placental mammals Science. 2023 04 28; 380(6643):eabn3943. . View in PubMed

The functional and evolutionary impacts of human-specific deletions in conserved elements Science. 2023 04 28; 380(6643):eabn2253. . View in PubMed

A genomic timescale for placental mammal evolution Science. 2023 04 28; 380(6643):eabl8189. . View in PubMed

The contribution of historical processes to contemporary extinction risk in placental mammals Science. 2023 04 28; 380(6643):eabn5856. . View in PubMed

Insights into mammalian TE diversity through the curation of 248 genome assemblies Science. 2023 04 28; 380(6643):eabn1430. . View in PubMed

Mammalian evolution of human cis-regulatory elements and transcription factor binding sites Science. 2023 04 28; 380(6643):eabn7930. . View in PubMed

The lingering effects of Neanderthal introgression on human complex traits Elife. 2023 03 20; 12. . View in PubMed

SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease Cell Genom. 2022 Jul 13; 2(7). . View in PubMed

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics Nat Genet. 2022 10; 54(10):1479-1492. . View in PubMed

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity Nat Genet. 2022 06; 54(6):827-836. . View in PubMed

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores Nat Genet. 2022 04; 54(4):450-458. . View in PubMed

Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes Am J Hum Genet. 2022 04 07; 109(4):692-709. . View in PubMed

Partitioning gene-mediated disease heritability without eQTLs Am J Hum Genet. 2022 03 03; 109(3):405-416. . View in PubMed

Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics bioRxiv. 2021 Nov 23. . View in PubMed

A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2 bioRxiv. 2021 Feb 25. . View in PubMed

COVID-19 tissue atlases reveal SARS-CoV-2 pathology and cellular targets Nature. 2021 07; 595(7865):107-113. . View in PubMed

Methotrexate and rheumatoid arthritis associated interstitial lung disease Eur Respir J. 2021 02; 57(2). . View in PubMed

Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets Nat Commun. 2021 10 18; 12(1):6052. . View in PubMed

An integrated approach to identify environmental modulators of genetic risk factors for complex traits Am J Hum Genet. 2021 10 07; 108(10):1866-1879. . View in PubMed

Population-specific causal disease effect sizes in functionally important regions impacted by selection Nat Commun. 2021 02 17; 12(1):1098. . View in PubMed

Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations Hum Mol Genet. 2021 07 28; 30(16):1521-1534. . View in PubMed

Functionally informed fine-mapping and polygenic localization of complex trait heritability Nat Genet. 2020 12; 52(12):1355-1363. . View in PubMed

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases Nat Genet. 2020 07; 52(7):669-679. . View in PubMed

Liability threshold modeling of case-control status and family history of disease increases association power Nat Genet. 2020 05; 52(5):541-547. . View in PubMed

Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank J Allergy Clin Immunol. 2020 02; 145(2):537-549. . View in PubMed

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease Nat Commun. 2020 12 07; 11(1):6258. . View in PubMed

Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability Hum Mol Genet. 2020 05 08; 29(7):1057-1067. . View in PubMed

Genes with High Network Connectivity Are Enriched for Disease Heritability Am J Hum Genet. 2019 Dec 05; 105(6):1302. . View in PubMed

Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection Nat Genet. 2019 Aug; 51(8):1295. . View in PubMed

Reconciling S-LDSC and LDAK functional enrichment estimates Nat Genet. 2019 08; 51(8):1202-1204. . View in PubMed

Functional disease architectures reveal unique biological role of transposable elements Nat Commun. 2019 09 06; 10(1):4054. . View in PubMed

Genes with High Network Connectivity Are Enriched for Disease Heritability Am J Hum Genet. 2019 05 02; 104(5):896-913. . View in PubMed

Extreme Polygenicity of Complex Traits Is Explained by Negative Selection Am J Hum Genet. 2019 09 05; 105(3):456-476. . View in PubMed

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection Nat Commun. 2019 02 15; 10(1):790. . View in PubMed

The Genetic Architecture of Chronic Mountain Sickness in Peru Front Genet. 2019; 10:690. . View in PubMed

Leveraging Polygenic Functional Enrichment to Improve GWAS Power Am J Hum Genet. 2019 01 03; 104(1):65-75. . View in PubMed

Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species Am J Hum Genet. 2019 04 04; 104(4):611-624. . View in PubMed

IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors Am J Hum Genet. 2019 05 02; 104(5):879-895. . View in PubMed

Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma Genes Chromosomes Cancer. 2018 Jun; 57(6):294-303. . View in PubMed

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability Eur J Hum Genet. 2018 12; 26(12):1759-1772. . View in PubMed

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations Nat Genet. 2018 11; 50(11):1600-1607. . View in PubMed

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk Nat Genet. 2018 10; 50(10):1483-1493. . View in PubMed

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits Nat Genet. 2018 07; 50(7):1041-1047. . View in PubMed

Mixed-model association for biobank-scale datasets Nat Genet. 2018 07; 50(7):906-908. . View in PubMed

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits Nat Genet. 2018 05; 50(5):737-745. . View in PubMed

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types Nat Genet. 2018 04; 50(4):621-629. . View in PubMed

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease N Engl J Med. 2018 12 06; 379(23):2209-2219. . View in PubMed

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection Nat Genet. 2017 Oct; 49(10):1421-1427. . View in PubMed

Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues Am J Hum Genet. 2017 Apr 06; 100(4):605-616. . View in PubMed

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis Eur Respir J. 2017 05; 49(5). . View in PubMed

Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis RMD Open. 2017; 3(2):e000448. . View in PubMed

Can whole-exome sequencing data be used for linkage analysis? Eur J Hum Genet. 2016 Apr; 24(4):581-6.. View in PubMed

Relationship inference from the genetic data on parents or offspring: A comparative study Theor Popul Biol. 2016 Feb; 107:31-8. . View in PubMed

High level of inbreeding in final phase of 1000 Genomes Project Sci Rep. 2015 Dec 02; 5:17453. . View in PubMed

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network Nat Genet. 2015 Nov; 47(11):1334-40. . View in PubMed

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease Brain. 2015 Aug; 138(Pt 8):2347-58. . View in PubMed

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis Eur Respir J. 2015 Aug; 46(2):474-85. . View in PubMed

Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition Int J Cancer. 2015 May 01; 136(9):2109-19. . View in PubMed

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene Ann Rheum Dis. 2015 Mar; 74(3):e19. . View in PubMed

Juvenile myelomonocytic leukaemia and Noonan syndrome J Med Genet. 2014 Oct; 51(10):689-97. . View in PubMed

SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis Ann Rheum Dis. 2014 Oct; 73(10):1840-3. . View in PubMed

FSuite: exploiting inbreeding in dense SNP chip and exome data Bioinformatics. 2014 Jul 01; 30(13):1940-1. . View in PubMed

Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III Hum Hered. 2014; 77(1-4):49-62. . View in PubMed

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk Biomed Res Int. 2014; 2014:925716. . View in PubMed

The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population PLoS One. 2013; 8(8):e70621. . View in PubMed

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly Am J Hum Genet. 2012 Dec 07; 91(6):1135-43. . View in PubMed

Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed? Hum Hered. 2012; 74(3-4):142-52.. View in PubMed

Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya Am J Hum Genet. 2011 Jun 10; 88(6):718-728. . View in PubMed

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet. 2011 May; 19(5):583-7.. View in PubMed