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Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease
TLDR
The presence of CHIP in peripheral‐blood cells was associated with nearly a doubling in the risk of coronary heart disease in humans and with accelerated atherosclerosis in mice. Expand
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
TLDR
In an analysis of participants with serial lipid measurements over many years, FH mutation carriers had higher cumulative exposure to LDL cholesterol than noncarriers and within any stratum of observed LDL cholesterol, risk of CAD was higher among FH mutations carriers than non carriers. Expand
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
TLDR
It is shown that TTNtv is the most common genetic cause of DCM in ambulant patients in the community, identify clinically important manifestations ofTTNtv-positive DCM, and define the penetrance and outcomes of TTNTV in the general population. Expand
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.
TLDR
Among participants at high genetic risk, a favorable lifestyle was associated with a nearly 50% lower relative risk of coronary artery disease than was an unfavorable lifestyle, and across four studies involving 55,685 participants, genetic and lifestyle factors were independently associated with susceptibility to coronary arteries disease. Expand
Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants
TLDR
The increased risk for CVD conferred by APOL1 alleles was robust to correction for both traditional CVD risk factors and chronic kidney disease, indicating a genetic component to cardiovascular health disparities in individuals of African ancestry. Expand
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood
TLDR
A new polygenic predictor comprised of 2.1 million common variants to quantify inherited susceptibility to obesity is derived and validated and test this predictor in more than 300,000 individuals ranging from middle age to birth. Expand
Evolutionary Diversity of the Mitochondrial Calcium Uniporter
TLDR
The analyses indicate that the uniporter may have been an early feature of mitochondria, and homologs of both components tend to co-occur in all major branches of eukaryotic life, but both have been lost along certain protozoan and fungal lineages. Expand
Association of sickle cell trait with chronic kidney disease and albuminuria in African Americans.
TLDR
The findings suggest that SCT may be associated with the higher risk of kidney disease in African Americans, compared with noncarriers. Expand
Single-Cell Resolution of Temporal Gene Expression during Heart Development.
TLDR
This spatiotemporal transcriptome analysis of heart development reveals lineage-specific gene programs underlying normal cardiac development and congenital heart disease. Expand
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
TLDR
Accurate estimates of variant effect sizes from population-based sequencing are needed to avoid falsely predicting a substantial fraction of individuals as being at risk for MODY or other Mendelian diseases. Expand
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