Terri H. Beaty
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View article: Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos
Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos Open
Background/Objectives: Maternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P)—a common and highly heritable birth defect with a multifactorial etiology. Methods: To identify new risk lo…
View article: Variants in<i>CALD1</i>,<i>ESRP1</i>, and<i>RBFOX1</i>are associated with orofacial cleft risk
Variants in<i>CALD1</i>,<i>ESRP1</i>, and<i>RBFOX1</i>are associated with orofacial cleft risk Open
Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic det…
View article: Gene-by-environment interactions involving maternal exposures with orofacial cleft risk in Filipinos
Gene-by-environment interactions involving maternal exposures with orofacial cleft risk in Filipinos Open
Maternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P) – a common and highly heritable birth defect with a multifactorial etiology. To identify new CL/P risk loci, we conducted a genome…
View article: Chronic Obstructive Pulmonary Disease Exacerbations Increase the Risk of Subsequent Cardiovascular Events: A Longitudinal Analysis of the COPDGene Study
Chronic Obstructive Pulmonary Disease Exacerbations Increase the Risk of Subsequent Cardiovascular Events: A Longitudinal Analysis of the COPDGene Study Open
Background Cardiovascular disease (CVD) is the most important comorbidity in patients with chronic obstructive pulmonary disease (COPD). COPD exacerbations not only contribute to COPD progression but may also elevate the risk of CVD. This …
View article: Genome-wide study of gene-by-sex interactions identifies risks for cleft palate
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate Open
Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural birth defects and are often divided into cleft…
View article: Blood-based Transcriptomic and Proteomic Biomarkers of Emphysema
Blood-based Transcriptomic and Proteomic Biomarkers of Emphysema Open
Rationale: Emphysema is a chronic obstructive pulmonary disease phenotype with important prognostic implications. Identifying blood-based biomarkers of emphysema will facilitate early diagnosis and development of targeted therapies. Object…
View article: Early Evidence of Chronic Obstructive Pulmonary Disease Obscured by Race-Specific Prediction Equations
Early Evidence of Chronic Obstructive Pulmonary Disease Obscured by Race-Specific Prediction Equations Open
Rationale: The identification of early chronic obstructive pulmonary disease (COPD) is essential to appropriately counsel patients regarding smoking cessation, provide symptomatic treatment, and eventually develop disease-modifying treatme…
View article: Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma Open
US NIH/NHLBI grants: P01HL132825, K99HL159234. N01-HC-25195 and HHSN268201500001I.
View article: Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts Open
Introduction The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in l…
View article: Causes of and Clinical Features Associated with Death in Tobacco Cigarette Users by Lung Function Impairment
Causes of and Clinical Features Associated with Death in Tobacco Cigarette Users by Lung Function Impairment Open
Rationale: Cigarette smoking contributes to the risk of death through different mechanisms. Objectives: To determine how causes of and clinical features associated with death vary in tobacco cigarette users by lung function impairment. Met…
View article: Rare genetic variants in<i>SEC24D</i>modify orofacial cleft phenotypes
Rare genetic variants in<i>SEC24D</i>modify orofacial cleft phenotypes Open
As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that there are genetic differences between the different phenotypic presentations of OFCs. Howe…
View article: Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate Open
Orofacial clefts (OFCs) are the most common craniofacial birth defects and are often categorized into two etiologically distinct groups: cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP). CP is highly heritable, …
View article: Additional file 4 of X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study
Additional file 4 of X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study Open
Additional file 4: Table S3. Replication Examination Of Associations From Other Studies In This XWAS Meta-analysis
View article: Additional file 2 of X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study
Additional file 2 of X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study Open
Additional file 2: Table S1. XWAS Meta-analysis All Top Suggested Associations At 10-6 Or Less If Present, Otherwise Top Suggested Associations At 10–5 Or Less
View article: Additional file 3 of X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study
Additional file 3 of X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study Open
Additional file 3: Table S2. XWAS Meta-analysis Top ACE2 Xp22.2 Variants
View article: Association of prenatal exposure to opioids, cannabis, and polysubstance use with cord blood DNA methylation patterns in a multiancestry cohort
Association of prenatal exposure to opioids, cannabis, and polysubstance use with cord blood DNA methylation patterns in a multiancestry cohort Open
Background: Blood DNA methylation patterns are highly predictive of prenatal exposure to smoking and differential methylation has been associated with maternal alcohol use. We extended this to determine whether DNA methylation patterns in …
View article: Damaging Mutations in <b> <i>AFDN</i> </b> Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
Damaging Mutations in <b> <i>AFDN</i> </b> Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate Open
Objectives Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that cou…