Amber Burt
A5055332509- Birth, Development, and Health
- Epigenetics and DNA Methylation
- Pregnancy and preeclampsia studies
- Genetic Associations and Epidemiology
- Neonatal Respiratory Health Research
- Heavy Metal Exposure and Toxicity
- MicroRNA in disease regulation
- Paraoxonase enzyme and polymorphisms
- Nutrition, Genetics, and Disease
- Health, Environment, Cognitive Aging
- Genomics and Rare Diseases
- Pesticide Exposure and Toxicity
- Cleft Lip and Palate Research
- Folate and B Vitamins Research
- Autism Spectrum Disorder Research
- Cynara cardunculus studies
- Craniofacial Disorders and Treatments
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- Congenital Heart Disease Studies
- Infant Development and Preterm Care
- Genetic and phenotypic traits in livestock
- Blood groups and transfusion
- Cancer Genomics and Diagnostics
- Lipid metabolism and disorders
Emory University
2018-2025
University of Washington
2012-2022
University of Washington Medical Center
2012-2019
Seattle University
2011
University of Miami
2008-2011
Newcastle University
2009
Hôpital Robert-Debré
2009
Parkinson disease (PD) is a chronic neurodegenerative disorder with cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These implicated several genes as PD risk loci strong, but not significant, associations. In this study, we combined data from two previously published GWAS Caucasian subjects our 604 cases and 619 controls for joint analysis sample size 1752 1745...
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order investigate the criteria and processes assigning pathogenicity of specific variants estimate frequency patients European African ancestry, we classified potentially actionable pathogenic single-nucleotide (SNVs) all 4300 European- 2203 African-ancestry participants sequenced by NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected...
Non-syndromic cleft lip with or without palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated studies begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development upper fusion therefore strong candidates for an etiological role NSCLP. Furthermore, the clf1 region A/WyN clefting susceptible mice contains Wnt3 Wnt9B genes. To assess of family NSCLP, we interrogated seven (Wnt3, Wnt3A, Wnt5A, Wnt7A,...
The electronic MEdical Records and GEnomics (eMERGE) network brings together DNA biobanks linked to health records (EHRs) from multiple institutions. Approximately 51,000 samples distinct individuals have been genotyped using genome-wide SNP arrays across the nine sites of network. eMERGE Coordinating Center Genomics Workgroup developed a pipeline impute merge genomic data different maximize sample size power detect associations with variety clinical endpoints. 1000 Genomes cosmopolitan...
The human pan-tissue epigenetic clock is widely used for estimating age across the entire lifespan, but it does not lend itself well to gestational (GA) based on placental DNAm methylation (DNAm) data.We replicate previous findings demonstrating a strong correlation between GA and genome-wide changes.Using substantially more arrays (n=1,102 in training set) than study, we present three new clocks: 1) robust (RPC) which unaffected by common pregnancy complications (e.g., diabetes,...
Vitamin D and vitamin receptor (VDR) have been postulated as environmental genetic factors in neurodegeneration disorders including multiple sclerosis (MS), Alzheimer disease (AD), recently Parkinson (PD). Given the sparse data on PD, we conducted a two-stage study to evaluate effects of VDR PD. In discovery stage, 30 tagSNPs were tested for association with risk discrete trait age-at-onset (AAO) quantitative 770 Caucasian PD families. validation 18 SNPs an independent cohort (267 cases 267...
Herpes zoster, commonly referred to as shingles, is caused by the varicella zoster virus (VZV). VZV initially manifests chicken pox, most in childhood, can remain asymptomatically latent nerve tissues for many years and often re-emerges shingles. Although reactivation may be related immune suppression, aging female sex, inter-individual variability re-emergence risk has not been explained date. We performed a genome-wide association analyses 22,981 participants (2280 shingles cases) from...
Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of variants individuals undergoing genome-scale sequencing should be informed by penetrance estimates HH unselected samples. We used the eMERGE Network, multicenter cohort genotype data linked to electronic medical records, estimate diagnostic rate clinical 98 homozygous...
Abstract Neonatal molecular biomarkers of neurobehavioral responses (measures brain-behavior relationships), when combined with performance measures, could lead to better predictions long-term developmental outcomes. To this end, we examined whether variability in buccal cell DNA methylation (DNAm) associated profiles a cohort infants born less than 30 weeks postmenstrual age (PMA) and participating the Neurobehavior Outcomes Very Preterm Infants (NOVI) Study (N = 536). We tested epigenetic...
Increasing evidence supports the role of placenta in neurodevelopment and onset neuropsychiatric disorders. Recently, mQTL iQTL maps have proven useful understanding relationships between SNPs GWAS that are not captured by eQTL. In this context, we propose part genetic predisposition to complex disorders acts through placental DNA methylation. We construct a public cis-mQTL database including 214,830 CpG sites calculated 368 fetal samples from INMA project, run cell type-, gestational age-...
Background Recent studies have failed to establish a causal relationship between high‐density lipoprotein cholesterol levels ( HDL ‐C) and cardiovascular disease CVD ), shifting focus other measures. We previously reported that smaller/denser are protective against cerebrovascular disease. This study sought determine which of small+medium particle concentration ‐P) or large ‐P was more strongly associated with carotid intima‐media thickening cIMT ) in an ethnically diverse cohort. Methods...