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Author Details

Joshua D Smith
University of Washington
1998
105
47
PMIDPaper TitleJournal TitlePublished Year
36463326Gene expression associations with body mass index in the Multi-Ethnic Study of Atherosclerosis.Int J Obes (Lond)2023
37601969Multiset correlation and factor analysis enables exploration of multi-omics data.Cell Genom2023
37662416Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies.bioRxiv2023
36463326Gene expression associations with body mass index in the Multi-Ethnic Study of Atherosclerosis.Int J Obes (Lond)2023
37425716Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.bioRxiv2023
36721044An integrated multi-omics analysis of sleep-disordered breathing traits implicates P2XR4 purinergic signaling.Commun Biol2023
37662416Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies.bioRxiv2023
37601969Multiset correlation and factor analysis enables exploration of multi-omics data.Cell Genom2023
37425716Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.bioRxiv2023
36721044An integrated multi-omics analysis of sleep-disordered breathing traits implicates P2XR4 purinergic signaling.Commun Biol2023
35134542CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.J Mol Diagn2022
35134542CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.J Mol Diagn2022
35087136Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study.Sci Rep2022
35346344Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.Genome Med2022
35346344Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.Genome Med2022
35087136Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study.Sci Rep2022
34015820Benchmarking association analyses of continuous exposures with RNA-seq in observational studies.Brief Bioinform2021
34015820Benchmarking association analyses of continuous exposures with RNA-seq in observational studies.Brief Bioinform2021
33679876Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify <i>MYRIP</i>, <i>TRAPPC11</i>, and <i>SLC27A6</i> of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population.Front Genet2021
33679876Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify <i>MYRIP</i>, <i>TRAPPC11</i>, and <i>SLC27A6</i> of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population.Front Genet2021
30510241Discovery of common and rare genetic risk variants for colorectal cancer.Nat Genet2019
30510241Discovery of common and rare genetic risk variants for colorectal cancer.Nat Genet2019
30820706Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.Hum Genet2019
30806792Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.Hum Genet2019
31215115Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.Hum Mutat2019
30951678De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.Am J Hum Genet2019
31254090Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.Hum Genet2019
31328417Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.Birth Defects Res2019
31328417Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.Birth Defects Res2019
31215115Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.Hum Mutat2019
31254090Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.Hum Genet2019
30951678De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.Am J Hum Genet2019
30806792Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.Hum Genet2019
30820706Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.Hum Genet2019
29168297Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.Am J Med Genet A2018
30537273Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290-300.Am J Med Genet A2018
29168297Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.Am J Med Genet A2018
29590102Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.PLoS Genet2018
29360107Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2018
29805042Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.Am J Hum Genet2018
29805042Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.Am J Hum Genet2018
30537273Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290-300.Am J Med Genet A2018
29360107Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2018
29590102Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.PLoS Genet2018
26927283Statin-induced expression change of INSIG1 in lymphoblastoid cell lines correlates with plasma triglyceride statin response in a sex-specific manner.Pharmacogenomics J2017
28912365D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study.Arterioscler Thromb Vasc Biol2017
28341696A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.Diabetes2017
28332277Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.Am J Med Genet B Neuropsychiatr Genet2017
29257133Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2017
29161273Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data.PLoS One2017
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Collaborators

University of Washington
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Co-authored papers 18
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Broad Institute of MIT and Harvard
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Regeneron Pharmaceuticals Inc.
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Baylor College of Medicine
Co-authored papers 12
Beth Israel Deaconess Medical Center
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Broad Institute of Harvard and Massachusetts Institute of Technology (MIT)
Co-authored papers 10
Harvard Medical School, Harvard University
Co-authored papers 10
Co-authored papers 9
University of Mississippi Medical Center
Co-authored papers 9
Co-authored papers 9
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Co-authored papers 9
Co-authored papers 9
Co-authored papers 9
University of Washington
Co-authored papers 9
Co-authored papers 8
Co-authored papers 8
Co-authored papers 8