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Tools & Methods in Genetic Discovery

Priest JR, A primer to clinical genome sequencing. Current Opinion in Pediatrics, 2017.

Li et al, Transcriptomic Profiling Maps Anatomically Patterned Subpopulations among Single Embryonic Cardiac Cells. Developmental Cell, 2016.

Goldfeder et al, Medical implications of technical accuracy in genome sequencing. Genome medicine, 2016

Dewey et al, Sequence to medical phenotypes: a framework for interpretation of human whole genome DNA sequence data. PLoS Genet, 2015

Priest et al, Genomics in clinical practice. Heart, 2014


Genetics & Pathogenesis of Congenital Heart Disease

Paige et al, Risk factors associated with the development of double‐inlet ventricle congenital heart disease. Wiley Periodicals, 2019.

Saha et al, Substantial Cardiovascular Morbidity in Adults with Lower-Complexity Congenital Heart Disease. Circulation, 2019.

Pierpont et al, Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation, 2018.

Helle et al, Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genetic Epidemiology, 2018.

Zanetti et al, Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease: Addressing the Barker Hypothesis With Mendelian Randomization. Circulation: Genomic and Precision Medicine, 2018.

Helle et al, First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring. Journal of Pediatrics, 2018.

Paige et al, Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease. Circulation: Genomic and Precision Medicine, 2018.

Priest et al, Early somatic mosaicism is a rare cause of long-QT syndrome. PNAS, 2016

Priest et al, De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genet, 2016

Oyen et al, Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease. Circulation, 2016

Priest et al, Maternal Midpregnancy Glucose Levels and Risk of Congenital Heart Disease in Offspring. JAMA pediatrics, 2015

Priest et al, Self-reported history of childhood smoking is associated with an increased risk for peripheral arterial disease independent of lifetime smoking burden. PloS one, 2014

Priest et al, Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing. Heart Rhythm, 2014

Priest et al, Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. American Journal of Medical Genetics Part A, 2012

Priest et al, Triiodothyronine supplementation and cytokines during cardiopulmonary bypass in infants and children. The Journal of thoracic and cardiovascular surgery, 2012


Early Work in Genomics & Other Fun Stuff

Noonan et al, Genomic sequencing of Pleistocene cave bears. Science, 2005

Shin et al, Human-zebrafish non-coding conserved elements act in vivo to regulate transcription. Nucleic Acids Research, 2005

Schmutz et al, The DNA sequence and comparative analysis of human chromosome 5. Nature, 2004

Priest et al, Relationships of the location and content of rounds to specialty, institution, patient-census, and team size. PloS one, 2010

Assimes et al, A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease. Atherosclerosis, 2008

Hlatky et al, Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease. American heart journal, 2007