A5058117644- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetics, Bioinformatics, and Biomedical Research
- Cancer Genomics and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Congenital Heart Disease Studies
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Cancer-related Molecular Pathways
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Congenital gastrointestinal and neural anomalies
- Genetic Neurodegenerative Diseases
- RNA and protein synthesis mechanisms
- Cystic Fibrosis Research Advances
- Folate and B Vitamins Research
PerkinElmer (United States)
2013-2023
Emory University
2012-2021
Eurofins (United States)
2018
Emory and Henry College
2013-2016
Emory Healthcare
2010-2016
Abbott (United States)
2010
Siemens Healthcare (Germany)
2010
Abbott (Spain)
2010
Agilent Technologies (United States)
2010
University of Pikeville
2010
Neuromuscular diseases (NMDs) are a group of >200 highly genetically as well clinically heterogeneous inherited genetic disorders that affect the peripheral nervous and muscular systems, resulting in gross motor disability. The clinical heterogeneities NMDs make disease diagnosis complicated expensive, often involving multiple tests.To expedite molecular NMDs, we designed validated several next generation sequencing (NGS)-based comprehensive gene panel tests include complementary deletion...
Abstract Objective Limb‐girdle muscular dystrophies ( LGMD s), one of the most heterogeneous neuromuscular disorders NMD involves predominantly proximal‐muscle weakness with >30 genes associated different subtypes. The clinical‐genetic overlap among subtypes and other s complicate disease‐subtype identification lengthening diagnostic process, increases overall costs hindering treatment/clinical‐trial recruitment. Currently seven clinical trials are active but still no gene‐therapy‐related...
The abbreviations used are: CaM-kinase 11, calcium/calmodulindependent protein kinase 11; EGTA, [ethylenebis(oxyethylene-nitri1o)ltetraacetic acid; HEPES, N-2-hydroxyethylpiperazine-N'-2
Abstract Cardiac abnormalities are one of the most common congenital defects observed in individuals with Down syndrome. Considerable research has implicated both folate deficiency and genetic variation pathway genes birth defects, including heart (CHD) syndrome (DS). Here, we test for a role major DS‐associated CHD atrioventricular septal defect (AVSD). In group 121 case families (mother, father, proband DS AVSD) 122 control no CHD), tag SNPs were genotyped around five genes:...
Molecular diagnosis for Duchenne and Becker muscular dystrophies (DMD/BMD) involves a two-tiered approach detection of deletions/duplications using MLPA or array CGH, followed by sequencing coding flanking intronic regions to detect sequence variants, which is time-consuming expensive. We have developed comprehensive next-generation (NGS)-based single-step assay the entire 2.2 Mb DMD gene all copy number variants in both index males carrier females. Assay validation was 100% concordant with...
Current technology allows clinical laboratories to rapidly translate research discoveries from small patient cohorts into genetic tests; therefore, a potentially large proportion of sequence variants identified in individuals with features disorder remain unpublished. Without mechanism for share data, interpretation may be inconsistent. We describe here the two components Emory Genetics Laboratory's (EGL) in-house developed data management system. The first is highly curated variant database...
Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects and may be congenital heart other birth defects. Individuals Down syndrome are at high have shown to abnormal folate metabolism.As part of the population-based case-control National Syndrome Project, 1011 mothers infants reported their use supplements containing acid. These data were used determine whether lack periconceptional maternal is in syndrome. We logistic regression test relationship...
Abstract Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement the cellular components myelin. Previous estimates suggest incidence leukodystrophies as whole to be 1 in 7,000 individuals, however frequency specific diagnoses relative others has not been described. Next generation sequencing approaches offer opportunity redefine our understanding different...
Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT). Patients with demonstrate reduced GALT activity and carry one profoundly impaired allele (G) along second, partially (Duarte-2, D2). Molecular studies reveal at least five sequence changes on D2 alleles: p.N314D missense substitution, three intronic base 4 bp deletion in the 5′ proximal sequence. The four non-coding are unique D2. however, not; it...
Previously, we found that the protein kinase C (PKC) inhibitor H7 stimulates p53 to accumulate in a form incapable of inducing transcription from p53-dependent promoters. We concluded inhibits constitutive C-terminal phosphorylation p53, which regulates its turnover unstressed cells. now show and MDM2 (HDM2 human cells) are together nuclei H7-treated cells can be co-immunoprecipitated. Despite this association with ubiquitin ligase MDM2, ubiquitinated was not detected Furthermore,...