J. Priest

发表

Phenome-wide Burden of Copy Number Variation in the UK Biobank.

M. Rivas, Matthew Aguirre, J. Priest, 2019, American journal of human genetics.

Weakly supervised classification of aortic valve malformations using unlabeled cardiac MRI sequences

Euan A. Ashley, Christopher Ré, Jared Dunnmon, 2019, Nature Communications.

The DNA sequence and comparative analysis of human chromosome 5

Paul Richardson, Jan-Fang Cheng, Steve Lowry, 2004, Nature.

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

M. Rivas, Matthew Aguirre, J. Priest, 2020, PLoS genetics.

Maternal Midpregnancy Glucose Levels and Risk of Congenital Heart Disease in Offspring.

G. Shaw, J. Knowles, J. Priest, 2015, JAMA pediatrics.

Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease

J. Priest, T. Quertermous, H. Boyd, 2016, Circulation.

Cardiac imaging of aortic valve area from 26,142 UK Biobank participants reveal novel genetic associations and shared genetic comorbidity with multiple disease phenotypes

M. Rivas, E. Ashley, Yosuke Tanigawa, 2020, medRxiv.

Cardiac Imaging of Aortic Valve Area From 34 287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes

M. Rivas, Christopher Ré, E. Ashley, 2020, Circulation. Genomic and precision medicine.

Genome-wide association study in European patients with congenital heart disease identifies risk loci for transposition of the great arteries and anomalies of the thoracic arteries and veins and expression of discovered candidate genes in the developing heart

R. Lange, J. Priest, T. Meitinger, 2020, bioRxiv.

Single-Cell RNA-Seq of the Developing Cardiac Outflow Tract Reveals Convergent Development of the Vascular Smooth Muscle Cells.

J. Priest, Bin Zhou, Xuanyu Liu, 2019, Cell reports.

Disruption of Protein Quality Control of Human Ether-à-go-go Related Gene K+ Channel Results in Profound Long QT Syndrome.

Hannah A. Ledford, E. Ashley, J. Priest, 2021, Heart rhythm.

Relationships of the Location and Content of Rounds to Specialty, Institution, Patient-Census, and Team Size

J. Priest, C. Braddock, S. Bereknyei, 2010, PloS one.

Inherited Extremes of Aortic Diameter Confer Risk for a Specific Class of Congenital Heart Disease.

J. Priest, D. Zanetti, C. Tcheandjieu, 2020, Circulation. Genomic and precision medicine.

Inherited extremes of aortic diameter confer risk for a specific class of congenital heart disease.

J. Priest, D. Zanetti, C. Tcheandjieu, 2020, medRxiv.

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

M. Hurles, E. Eichler, V. Sheffield, 2016, PLoS genetics.

Self-Reported History of Childhood Smoking Is Associated with an Increased Risk for Peripheral Arterial Disease Independent of Lifetime Smoking Burden

J. Priest, J. Cooke, N. Leeper, 2014, PloS one.

High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease

Alexander E. Lopez, Manuel A. Rivas, Manuel A Rivas, 2022, Nature Genetics.

Maternal Obesity and Diabetes Mellitus as Risk Factors for Congenital Heart Disease in the Offspring

J. Priest, E. Helle, 2020, Journal of the American Heart Association.

First Trimester Plasma Glucose Values in Non-Diabetic Women are Associated with Risk for Congenital Heart Disease in Offspring

G. Shaw, J. Knowles, J. Priest, 2018 .

First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring

G. Shaw, J. Knowles, J. Priest, 2017, The Journal of pediatrics.

Clonally expanding smooth muscle cells promote atherosclerosis by escaping efferocytosis and activating the complement cascade

Clint L. Miller, I. Weissman, J. Björkegren, 2020, Proceedings of the National Academy of Sciences.

Leveraging Machine Learning for Translational Genetics of Cardiovascular Imaging.

J. Priest, 2022, Journal of the American College of Cardiology.

Learning epistatic polygenic phenotypes with Boolean interactions

A. Butte, E. Ashley, Matthew Aguirre, 2020, bioRxiv.

Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.

J. Priest, Priyanka Saha, Sharon L. Paige, 2018, Circulation. Genomic and precision medicine.

Maternal and perinatal obesity induce bronchial obstruction and pulmonary hypertension via IL-6-FoxO1-axis in later life

J. Priest, M. Odenthal, S. Pullamsetti, 2022, Nature Communications.

Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries

Shengshou Hu, J. Priest, Xuanyu Liu, 2020, Circulation research.

Single-cell RNA-seq of the Developing Cardiac Outflow Tract Reveals Convergent Development of the Vascular Smooth Muscle Cells at the Base of the Great Arteries

J. Priest, Xuanyu Liu, Wen Chen, 2018, bioRxiv.

Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.

Euan A Ashley, Marco V Perez, Frederick E Dewey, 2014, Heart rhythm.

Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease

J. Priest, T. Quertermous, H. Boyd, 2016, Circulation.

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

W. Chung, J. Priest, W. Pu, 2018, Circulation.

Early somatic mosaicism is a rare cause of long-QT syndrome

Euan A Ashley, Thomas O'Hara, Charles Gawad, 2016, Proceedings of the National Academy of Sciences.

Transcriptomic Profiling Maps Anatomically Patterned Subpopulations among Single Embryonic Cardiac Cells.

Bin Zhou, Stephen R Quake, Thomas Quertermous, 2016, Developmental cell.

Human-zebrafish non-coding conserved elements act in vivo to regulate transcription

I. Ovcharenko, J. Priest, C. Macrae, 2005, Nucleic acids research.

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.

Manuel A. Rivas, Manuel A Rivas, P. Tsao, 2020, medRxiv.

A phenome-wide association study of four syndromic genes reveals pleiotropic effects of common and rare variants in the general population

M. Rivas, Matthew Aguirre, J. Priest, 2019 .

Substantial Cardiovascular Morbidity in Adults With Lower-Complexity Congenital Heart Disease

G. Shaw, J. Priest, E. Ingelsson, 2019, Circulation.

Brucellosis and Sacroiliitis: A Common Presentation of an Uncommon Pathogen

J. Priest, Clifford C Wang, T. Bush, 2008, The Journal of the American Board of Family Medicine.

Ivy: Instrumental Variable Synthesis for Causal Inference pdf

Christopher R'e, Jared Dunnmon, Jared A. Dunnmon, 2020, AISTATS.

Comparative genomics: a tool to functionally annotate human DNA.

L. Pennacchio, J. Priest, Jan-Fang Cheng, 2007, Methods in molecular biology.

Genomic Sequencing of Pleistocene Cave Bears

Edward M. Rubin, James R. Priest, Johannes Krause, 2005, Science.

The complete sequence of human chromosome 5

Martin J. Pollard, E. Eichler, R. Myers, 2004 .

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

Russ B. Altman, Matthew Wheeler, Teri E. Klein, 2015, PLoS genetics.

Medical implications of technical accuracy in genome sequencing

Rachel L. Goldfeder, E. Ashley, M. Wheeler, 2016, Genome Medicine.

A primer to clinical genome sequencing

J. Priest, James R Priest, 2017, Current opinion in pediatrics.

Standards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia.

J. Knowles, J. Priest, 2016, Arteriosclerosis, thrombosis, and vascular biology.

Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease

J. Priest, E. Ingelsson, S. Gustafsson, 2018, Circulation. Genomic and precision medicine.

Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease

J. Priest, E. Ingelsson, S. Gustafsson, 2018, Circulation. Genomic and precision medicine.

Birthweight, Type 2 Diabetes and Cardiovascular Disease: Addressing the Barker Hypothesis with Mendelian randomization

J. Priest, E. Ingelsson, S. Gustafsson, 2017, bioRxiv.

Single‐cell transcriptomic landscape of cardiac neural crest cell derivatives during development

J. Priest, Xuanyu Liu, Wen Chen, 2021, EMBO reports.

Phenome-wide burden of copy number variation in UK Biobank

Matthew Aguirre, James Priest, M. Rivas, 2019, bioRxiv.

Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects

E. Eichler, J. Priest, S. Girirajan, 2012, American journal of medical genetics. Part A.

Genomics in clinical practice

E. Ashley, J. Priest, 2014, Heart.

Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease

T. Assimes, R. Myers, E. Boerwinkle, 2008, Human Genetics.

Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease

J. Priest, M. Fiterau, C. Dina, 2022, JCI insight.

Genetic determinants of interventricular septal anatomy and the risk of ventricular septal defects and hypertrophic cardiomyopathy

M. Farrall, J. Priest, A. Harper, 2021, medRxiv.

Computationally derived estimates of mitral annular diameter in 32,220 individuals across the cardiac cycle reveal novel genetic determinants of valve function and disease.

J. Priest, C. Dina, S. Damrauer, 2020, medRxiv.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Trevor J Pugh, L. Pennacchio, J. Priest, 2015, Human mutation.

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

D. Nickerson, E. Ashley, J. Priest, 2017, bioRxiv.

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank

J. Priest, B. Keavney, Priyanka Saha, 2020, European Journal of Human Genetics.

Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ∼500,000 UK Biobank individuals

J. Priest, B. Keavney, Priyanka Saha, 2019, bioRxiv.

Genomic and transcriptomic data analyses highlight KPNB1 and MYL4 as novel risk genes for congenital heart disease

J. Priest, T. Ojala, H. Ollila, 2022, medRxiv.

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

T. Assimes, R. Myers, E. Boerwinkle, 2008, Atherosclerosis.

Risk factors associated with the development of double‐inlet ventricle congenital heart disease

G. Shaw, J. Priest, L. Botto, 2019, Birth defects research.

Triiodothyronine supplementation and cytokines during cardiopulmonary bypass in infants and children.

J. Priest, A. Slee, D. Ledee, 2012, The Journal of thoracic and cardiovascular surgery.

Congenital heart disease risk loci identified by genome-wide association study in European patients.

R. Lange, J. Priest, T. Meitinger, 2020, The Journal of clinical investigation.

Association between the 4p16 genomic locus and different types of congenital heart disease: results from adult survivors in the UK Biobank

J. Priest, A. Córdova-Palomera, 2019, Scientific Reports.

Mendelian Randomization with Instrumental Variable Synthesis (IVY)

Christopher Ré, Jared Dunnmon, Jared A. Dunnmon, 2019, bioRxiv.

Adults With Mild‐to‐Moderate Congenital Heart Disease Demonstrate Measurable Neurocognitive Deficits

J. Priest, E. Ingelsson, Priyanka Saha, 2020, Journal of the American Heart Association.

Weakly supervised classification of aortic valve malformations using unlabeled cardiac MRI sequences

Jared A. Dunnmon, Jason Alan Fries, Christopher Ré, 2019, Nature Communications.

Maternal first trimester metabolic profile in pregnancies with transposition of the great arteries

J. Priest, T. Ojala, H. Surcel, 2022, Birth defects research.

Single-cell transcriptomic landscape of cardiac neural crest cell derivatives during embryonic and neonatal development

J. Priest, Xuanyu Liu, Wen Chen, 2019, bioRxiv.

Medical implications of technical accuracy in genome sequencing

Euan A. Ashley, Marc Salit, Justin M. Zook, 2016, Genome Medicine.

Weakly supervised classification of rare aortic valve malformations using unlabeled cardiac MRI sequences

Euan A. Ashley, Christopher Ré, Jared Dunnmon, 2018, bioRxiv.

Multi-Resolution Weak Supervision for Sequential Data

Frederic Sala, Christopher Ré, Kayvon Fatahalian, 2019, NeurIPS.

Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease.

R. Tibshirani, T. Assimes, R. Myers, 2007, American heart journal.

Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy

K. Pollard, M. Farrall, Matthew Aguirre, 2023, Circulation. Genomic and precision medicine.

Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes

K. Pollard, Matthew Aguirre, J. Priest, 2023, Circulation. Genomic and precision medicine.

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank

Kathryn E. Hentges, J. Priest, B. Keavney, 2020, European Journal of Human Genetics.

Relationship between ascending thoracic aortic diameter and blood pressure, a Mendelian randomization study

J. Priest, S. Damrauer, S. Burgess, 2022, Arteriosclerosis, thrombosis, and vascular biology.

Population based studies demonstrate strong familial recurrence of cardiac malformations with a relative risk of 12.9 for first-degree family members of individuals affected with a specific class of CHD, left-ventricular outflow

J. Priest, D. Zanetti, C. Tcheandjieu, 2020 .

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

W. Chung, J. Priest, W. Pu, 2018, Circulation.

Title : A phenome-wide association study of four syndromic genes reveals pleiotropic

Matthew Aguirre, J. Priest, E. Ingelsson, 2019 .

Exhaled nitric oxide levels correlate with measures of disease control in asthma.

J. Priest, S. Tilles, B. Nelson, 2000, The Journal of allergy and clinical immunology.

Maternal Midpregnancy Glucose Levels and Risk of Congenital Heart Disease in Offspring.

G. Shaw, J. Knowles, J. Priest, 2015, JAMA pediatrics.

Machine Learning for Automated Mitral Regurgitation Detection from Cardiac Imaging

E. Learned-Miller, E. Kalogerakis, J. Priest, 2023, MICCAI.

Abstract 239: Transcriptomic Profiling Maps Anatomically Patterned Subpopulations Among Single Embryonic Cardiac Cells

P. Tsao, S. Quake, J. Priest, 2017, Circulation Research.