Keck School Faculty

Steven Gazal
Steven Gazal
Assistant Professor of Preventive Medicine
Center for Genetic Epidemiology
1450 Biggy Street Health Sciences Campus Los Angeles

Methotrexate and rheumatoid arthritis associated interstitial lung disease Eur Respir J. 2020 Jul 09. . View in PubMed

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

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

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

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

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

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

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

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

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

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

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

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

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

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