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List of works by Gail P. Jarvik

"Getting off the Bus Closer to Your Destination": Patients' Views about Pharmacogenetic Testing

scientific article published in June 2015

2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler

scientific article published on March 2017

A GWAS Study on Liver Function Test Using eMERGE Network Participants

scientific article published on 28 September 2015

A Robust e-Epidemiology Tool in Phenotyping Heart Failure with Differentiation for Preserved and Reduced Ejection Fraction: the Electronic Medical Records and Genomics (eMERGE) Network

scientific article

A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project

scientific article published on 14 November 2014

A case for expanding carrier testing to include actionable X-linked disorders

scientific article published on 19 September 2018

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics

scientific article

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk

scientific article

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

scientific article published on 12 September 2013

A phenome-wide association study to discover pleiotropic effects of , , and

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

scientific article published in Nature Communications

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

scientific article

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

Additional Common Polymorphisms in thePONGene Cluster Predict PON1 Activity but Not Vascular Disease ⬇️

scientific article published on May 22, 2012

An examination of the genotyping error detection function of SIMWALK2.

scientific article published on 31 December 2003

Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease

scientific article published on December 2009

Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery

scientific article

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

scientific article published on 21 August 2018

Arterial remodeling in [corrected] subclinical carotid artery disease

scientific article

Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project

scientific article

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

scientific article published on January 2016

Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization

scientific article published on 01 January 2020

Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis

scientific article published on 01 February 2019

Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study

scientific article

Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry

scientific article published in 2021

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Beneficence, clinical urgency, and the return of individual research results to relatives

scientific article published on January 2012

Bias of allele-sharing linkage statistics in the presence of intermarker linkage disequilibrium

scientific article published on 30 December 2005

Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network

scientific article

Building a family network from genetic testing

scientific article published on 29 December 2016

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

scientific article published on 10 November 2015

CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies

scientific article

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

scientific article published on 03 July 2015

Characterizing genetic variants for clinical action

scientific article

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

scientific article

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

scientific article published on 12 January 2017

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

scientific article

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

scientific article

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

scientific article

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes

journal article published in 2014

Comparison of tagging single-nucleotide polymorphism methods in association analyses

scientific article

Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate

scientific article

Concentration of Smaller High-Density Lipoprotein Particle (HDL-P) Is Inversely Correlated With Carotid Intima Media Thickening After Confounder Adjustment: The Multi Ethnic Study of Atherosclerosis (MESA)

scientific article published on 20 May 2016

Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions

scientific article

Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer

scientific article

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

scientific article published on 26 May 2016

Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records

scientific article

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

scientific article published on 18 March 2014

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data

scientific article

Desiderata for computable representations of electronic health records-driven phenotype algorithms

scientific article

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

scientific article published on 07 December 2016

Detectable clonal mosaicism from birth to old age and its relationship to cancer

scientific article

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network

Determination of paraoxonase 1 status without the use of toxic organophosphate substrates

scientific article

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing

scientific article published on 05 March 2015

Dietary cholesterol increases paraoxonase 1 enzyme activity ⬇️

scientific article published on August 15, 2012

Dietary fatty acid intake is associated with paraoxonase 1 activity in a cohort-based analysis of 1,548 subjects

scientific article published on 12 December 2013

Discordance in selected designee for return of genomic findings in the event of participant death and estate executor

scientific article published on 16 January 2017

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

scientific article published on 24 July 2017

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births

scientific article published on 21 February 2017

Effects of dietary components on high-density lipoprotein measures in a cohort of 1,566 participants

scientific article

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

scientific article

Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.

scientific article

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records

scientific article

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

scientific article

Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment

scientific article published on 29 August 2003

Ex vivo measures of LDL oxidative susceptibility predict carotid artery disease

scientific article

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families

scientific article

Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia

scientific article published in November 2008

Functional genomic of the paraoxonase (PON1) polymorphisms: effects on pesticide sensitivity, cardiovascular disease, and drug metabolism

scientific article (publication date: 2003)

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

scientific article published on 20 February 2014

Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits

scientific article published on May 2012

Genetic and nongenetic sources of variation in phospholipid transfer protein activity

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network

scientific article

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

scientific article published on 30 October 2011

Genetic variation associated with circulating monocyte count in the eMERGE Network

scientific article published on 12 January 2013

Genetic variation in LPAL2, LPA, and PLG predicts plasma lipoprotein(a) level and carotid artery disease risk

scientific article

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

scientific article

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

scientific article published on 05 March 2013

Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q

scientific article

Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain

scientific article published on 27 September 2018

Genome-wide study of resistant hypertension identified from electronic health records

scientific article

Genomic Medicine Year in Review: 2019

scientific article published on 05 December 2019

Genomic Medicine Year in Review: 2020

scientific article published on 01 December 2020

Genomic research and wide data sharing: views of prospective participants

scientific article (publication date: August 2010)

Genomic scan of 254 hereditary prostate cancer families

scientific article

Genomics of the NF-κB signaling pathway: hypothesized role in ovarian cancer ⬇️

scientific article published on February 27, 2011

Glad you asked: participants' opinions of re-consent for dbGap data submission

scientific article

HDL-3 is a superior predictor of carotid artery disease in a case-control cohort of 1725 participants

scientific article

Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins

scientific article published on October 2007

High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE

scientific article

Identification of Four Novel Loci in Asthma in European American and African American Populations

scientific article published on 9 September 2016

Identification of a prostate cancer susceptibility locus on chromosome 7q11-21 in Jewish families

scholarly article

Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)

scientific article

Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

scientific article

Identifying patients at high risk of a cardiovascular event in the near future: current status and future directions: report of a national heart, lung, and blood institute working group

scientific article

Illustrative case studies in the return of exome and genome sequencing results

scientific article

Impact of HIPAA's minimum necessary standard on genomic data sharing

scientific article published on 14 September 2017

Imputation and quality control steps for combining multiple genome-wide datasets

scientific article

Increasing duration of deep hypothermic circulatory arrest is associated with an increased incidence of postoperative electroencephalographic seizures

scientific article

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

scientific article published in 2023

Inflammatory response after influenza vaccination in men with and without carotid artery disease

scientific article (publication date: December 2006)

Informed Consent in Genome-Scale Research: What Do Prospective Participants Think?

scientific article (publication date: July 2012)

Interaction between fibrinogen and IL-6 genetic variants and associations with cardiovascular disease risk in the Cardiovascular Health Study

scientific article

Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes

scientific article published on April 2017

Is "incidental finding" the best term?: a study of patients' preferences

scientific article published on 04 August 2016

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

scientific article published on 15 October 2010

J. Maxwell Chamberlain Memorial Paper for congenital heart surgery. Deep hypothermic circulatory arrest does not impair neurodevelopmental outcome in school-age children after infant cardiac surgery

scientific article published on December 2010

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia

scientific article

LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes

scientific article

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

scientific article

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

scientific article

Leveraging the electronic health record to implement genomic medicine

scientific article

Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families

scientific article

Linkage and association of phospholipid transfer protein activity to LASS4

scientific article

Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network

scientific article published on 22 September 2020

Loci influencing blood pressure identified using a cardiovascular gene-centric array

scientific article published on 8 January 2013

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

scientific article

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data

scientific article

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

scientific article

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study

scientific article published on 30 March 2020

Modifiable risk factors for chronic back pain: insights using the co-twin control design

scientific article

Multiple genome-wide analyses of smoking behavior in the Framingham Heart Study

scientific article published on 31 December 2003

National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health

scientific article published on December 2009

National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health: August 24-26, 2009.

scientific article published on August 2009

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

scientific article published on 31 August 2017

Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

scientific article published on 4 May 2015

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

scientific article published on 15 November 2012

Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol

scientific article published on 11 March 2013

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

scientific article

Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status ⬇️

scientific article published on May 1, 2003

Oligogenic segregation analysis of hereditary prostate cancer pedigrees: evidence for multiple loci affecting age at onset

scientific article published in July 2003

PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity

scientific article

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Parallel reaction monitoring (PRM) and selected reaction monitoring (SRM) exhibit comparable linearity, dynamic range and precision for targeted quantitative HDL proteomics

scientific article

Paraoxonase 1 (PON1) status and substrate hydrolysis

scientific article published on 13 November 2008

Paraoxonase 1 status as a risk factor for disease or exposure

scientific article

Paraoxonases-1, -2 and -3: what are their functions?

journal article published in 2016

Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey

scientific article published on 01 July 2018

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery

scientific article

Patient genotypes impact survival after surgery for isolated congenital heart disease

scientific article

Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death

scientific article

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

scientific article

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on 2 June 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on July 2016

Perioperative stroke in infants undergoing open heart operations for congenital heart disease

scientific article

Pharmacogenetics of paraoxonase activity: elucidating the role of high-density lipoprotein in disease

scientific article published on September 2013

Pharmacogenomic considerations of the paraoxonase polymorphisms

scientific article (publication date: May 2002)

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

scientific article

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality

scientific article

Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation

scientific article

Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy

scientific article

Practical barriers and ethical challenges in genetic data sharing

scientific article

Prediction of periventricular leukomalacia. Part I: Selection of hemodynamic features using logistic regression and decision tree algorithms

scientific article published on 21 January 2009

Prediction of periventricular leukomalacia. Part II: Selection of hemodynamic features using computational intelligence

scientific article published on 21 January 2009

Predictors of carotid atherosclerotic plaque progression as measured by noninvasive magnetic resonance imaging

scientific article

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

scientific article

Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network ⬇️

scientific article published on 3 July 2015

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

Quality control procedures for genome-wide association studies

scientific article published in 2011

Quantification of HDL particle concentration by calibrated ion mobility analysis

scientific article

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project

scientific article

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

scientific article

Recommendations for returning genomic incidental findings? We need to talk!

scientific article

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Refining the structure and content of clinical genomic reports

scientific article

Regulatory changes raise troubling questions for genomic testing

scientific article

Replication of Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies

article

Response to Phillips et al.

scientific article published in April 2015

Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy

scientific article

Return of genomic results to research participants: the floor, the ceiling, and the choices in between

scientific article

Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT).

scientific article

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

scientific article (publication date: April 2012)

Return of results in the genomic medicine projects of the eMERGE network

scientific article

Return of results: ethical and legal distinctions between research and clinical care

scientific article

Role of paraoxonase (PON1) status in pesticide sensitivity: genetic and temporal determinants

scientific article

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

scientific article

Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment

scientific article

Summary report: Missing data and pedigree and genotyping errors

scientific article

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

scientific article

TCIRG1-associated congenital neutropenia

scientific article

Technical desiderata for the integration of genomic data into Electronic Health Records ⬇️

scientific article published on December 27, 2011

The All of Us Research Program: Data quality, utility, and diversity

scientific article published in 2022

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

scientific article (publication date: October 2013)

The FDA and genomic tests--getting regulation right

scientific article published on 27 May 2015

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing

scientific article published on 13 November 2014

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

scientific article (publication date: 26 January 2011)

The phenotypic legacy of admixture between modern humans and Neandertals

scientific article

The polygenic architecture of left ventricular mass mirrors the clinical epidemiology

scientific article published on 05 May 2020

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery

scientific article

The role of parametric linkage methods in complex trait analyses using microsatellites

scientific article published on 30 December 2005

Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis

scientific article

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

scientific article published on 19 November 2011

Validation of association of the apolipoprotein E ε2 allele with neurodevelopmental dysfunction after cardiac surgery in neonates and infants

scientific article

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies

scientific article

Vitamin C and E intake is associated with increased paraoxonase activity

scientific article published in August 2002

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

scientific article

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

eMERGEing progress in genomics-the first seven years

scientific article

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