E. Venner

发表

A large-scale evaluation of computational protein function prediction

Daniel W. A. Buchan, Thomas A. Hopf, Mark N. Wass, 2013, Nature Methods.

Evolutionary trace annotation of protein function in the structural proteome.

S. Erdin, E. Venner, O. Lichtarge, 2010, Journal of molecular biology.

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Karynne E. Patterson, E. Venner, D. Kalra, 2022, medRxiv.

Function prediction from networks of local evolutionary similarity in protein structure

A. M. Lisewski, S. Erdin, E. Venner, 2013, BMC Bioinformatics.

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

Marc S. Williams, N. Lennon, W. Chung, 2021, medRxiv.

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications

David R. Murdock, R. Gibbs, E. Boerwinkle, 2021, Genetics in Medicine.

Neptune: An environment for the delivery of genomic medicine

David R. Murdock, W. Chung, R. Gibbs, 2021, Genetics in Medicine.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results

David C. Kochan, P. Caraballo, J. Olson, 2018, Mayo Clinic proceedings.

Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example

Keith Marsolo, Casey Overby Taylor, Pedro J. Caraballo, 2018, J. Am. Medical Informatics Assoc..

Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction

J. Lupski, R. Gibbs, D. Muzny, 2017, Circulation. Cardiovascular genetics.

Improving reporting standards for polygenic scores in risk prediction studies

C. Kooperberg, H. Wand, S. A. Lambert, 2020, Nature.

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

Lon Phan, Todd J. Treangen, Junzhou Wang, 2020, F1000Research.

Artificial Intelligence and Cardiovascular Genetics

Kipp W. Johnson, M. Schatz, E. Venner, 2022, Life.

Exome variant discrepancies due to reference genome differences.

Michael M. Khayat, J. Lupski, R. Gibbs, 2021, American journal of human genetics.

Genomic considerations for FHIR®; eMERGE implementation lessons

John J. Connolly, H. Hakonarson, R. Gibbs, 2021, J. Biomed. Informatics.

The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System (Preprint)

E. Boerwinkle, E. Venner, G. Metcalf, 2020 .

Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

N. Lennon, W. Chung, H. Hakonarson, 2022, JAMA oncology.

Frequency of genomic incidental findings among 21,915 eMERGE network participants

Magalie S Leduc, Marc S. Williams, N. Lennon, 2020, Genetics in Medicine.

Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia

Michael F. Wangler, Zhandong Liu, E. Venner, 2020, Molecular genetics & genomic medicine.

UET: a database of evolutionarily-predicted functional determinants of protein sequences that cluster as functional sites in protein structures

Angela D. Wilkins, Olivier Lichtarge, Rhonald C. Lua, 2015, Nucleic Acids Res..

Accounting for epistatic interactions improves the functional analysis of protein structures

Angela D. Wilkins, Olivier Lichtarge, Rhonald C. Lua, 2013, Bioinform..

Evolutionary Trace Annotation Server: automated enzyme function prediction in protein structures using 3D templates

Olivier Lichtarge, David M. Kristensen, Stephen Murray, 2009, Bioinform..

Best practices for the interpretation and reporting of clinical whole genome sequencing

David R. Murdock, Denise L. Perry, V. Jobanputra, 2022, NPJ genomic medicine.

The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System

E. Boerwinkle, E. Venner, G. Metcalf, 2021, JMIR research protocols.

Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.

Joseph A. Sutton, Krishna R. Kalari, Sebastian M. Armasu, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol).

Carolyn R Rohrer Vitek, Tammy M. McAllister, R. Gibbs, 2019, International journal of epidemiology.

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

N. Lennon, R. Gibbs, D. Nickerson, 2021, medRxiv.

Accurate Protein Structure Annotation through Competitive Diffusion of Enzymatic Functions over a Network of Local Evolutionary Similarities

Andreas Martin Lisewski, Olivier Lichtarge, Eric Venner, 2010, PloS one.

Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

Laney K. Jones, David C. Kochan, W. Chung, 2023, Circulation. Genomic and precision medicine.

Harmonizing variant classification for return of results in the All of Us Research Program

Matthew S. Lebo, David R. Murdock, R. Gibbs, 2021, Human mutation.

Genetic Sex Validation for Sample Tracking in Clinical Testing

N. Lennon, R. Gibbs, E. Boerwinkle, 2021, bioRxiv.

ARBoR: An Identity and Security Solution for Clinical Reporting

Shan Lu, Richard A. Gibbs, Eric Venner, 2019, bioRxiv.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

Alexander Fedotov, Simon White, Eric Boerwinkle, 2018, Genetics in Medicine.

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

N. Lennon, R. Gibbs, D. Nickerson, 2022, Genome Medicine.

ETAscape: analyzing protein networks to predict enzymatic function and substrates in Cytoscape

Benjamin J. Bachman, E. Venner, O. Lichtarge, 2012, Bioinform..

Empowering Personalized Pharmacogenomics with Generative AI Solutions

E. Venner, P. Empey, M. Murugan, 2024, medRxiv.

Defining and Reducing Variant Classification Disparities

Karynne E. Patterson, E. Venner, Irene Gallego Romero, 2024, medRxiv.

Genomic data in the All of Us Research Program

Matthew S. Lebo, Melissa A. Basford, Karynne E. Patterson, 2024, Nature.