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Lista de obras de Gail Jarvik

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

artículo científico publicado en 2015

2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler

artículo científico publicado en 2017

A GWAS Study on Liver Function Test Using eMERGE Network Participants

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado el 22 de mayo de 2012

An examination of the genotyping error detection function of SIMWALK2.

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Building a family network from genetic testing

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Characterizing genetic variants for clinical action

artículo científico publicado en 2014

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Comparison of tagging single-nucleotide polymorphism methods in association analyses

artículo científico publicado en 2007

Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate

artículo científico publicado en 2011

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)

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Dietary cholesterol increases paraoxonase 1 enzyme activity ⬇️

artículo científico publicado el 15 de agosto de 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

Ex vivo measures of LDL oxidative susceptibility predict carotid artery disease

artículo científico publicado en 2004

Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families ⬇️

artículo científico publicado el 1 de noviembre de 2013

Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Genetic and nongenetic sources of variation in phospholipid transfer protein activity

artículo científico publicado en 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Genetic variation associated with circulating monocyte count in the eMERGE Network

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Genomic Medicine Year in Review: 2019

artículo científico publicado en 2019

Genomic Medicine Year in Review: 2020

artículo científico publicado en 2020

Genomic research and wide data sharing: views of prospective participants

artículo científico publicado en 2010

Genomic scan of 254 hereditary prostate cancer families

artículo científico publicado en 2003

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

artículo científico publicado el 27 de febrero de 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2023

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Leveraging the electronic health record to implement genomic medicine

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Linkage and association of phospholipid transfer protein activity to LASS4

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado el 11 de marzo de 2013

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

artículo científico publicado en 2012

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

artículo científico publicado el 1 de mayo de 2003

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Paraoxonase 1 (PON1) status and substrate hydrolysis

artículo científico publicado en 2008

Paraoxonase 1 status as a risk factor for disease or exposure

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2007

Patient genotypes impact survival after surgery for isolated congenital heart disease

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Pharmacogenomic considerations of the paraoxonase polymorphisms

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado el 1 de julio de 2013

Practical barriers and ethical challenges in genetic data sharing

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Quality control procedures for genome-wide association studies

artículo científico publicado en 2011

Quantification of HDL particle concentration by calibrated ion mobility analysis

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Recommendations for the integration of genomics into clinical practice

artículo científico

Refining the structure and content of clinical genomic reports

artículo científico publicado en 2014

Regulatory changes raise troubling questions for genomic testing

artículo científico publicado en 2014

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

article

Response to Phillips et al.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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).

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Summary report: Missing data and pedigree and genotyping errors

artículo científico publicado en 2003

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

artículo científico publicado en 2013

TCIRG1-associated congenital neutropenia

artículo científico publicado en 2014

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

artículo científico publicado el 27 de diciembre de 2011

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

artículo científico publicado en 2022

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

artículo científico publicado el 6 de junio de 2013

The FDA and genomic tests--getting regulation right

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

The phenotypic legacy of admixture between modern humans and Neandertals

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Vitamin C and E intake is associated with increased paraoxonase activity

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

eMERGEing progress in genomics-the first seven years

artículo científico publicado en 2014

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