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Laura V. Milko | Researchclopedia

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Laura V. Milko

University of North Carolina at Chapel Hill ORCID

65

Works

2,626

Citations

20

h-index

28

i10-index

Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Ethics in Clinical Research

Affiliations

University of North Carolina at Chapel Hill2012–2025

University of North Carolina Health Care2019–2025

North Carolina State University2011–2011

National Academy of Sciences of Belarus2005–2005

Oregon Health & Science University2018–2018

Top Works

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Natasha T. Strande,Erin Rooney Riggs,et al.

2017548 citations

Nutrition, Genetics, and Disease

Genomic variations and chromosomal abnormalities

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

Jodie Ingles,Jennifer Goldstein,et al.

2019444 citations

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg,Pankaj B. Agrawal,et al.

2017232 citations

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

E. Andres Rivera-Munoz,Laura V. Milko,et al.

2018211 citations

Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

Jessica L. Mester,Rajarshi Ghosh,et al.

2018169 citations

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Jessica Ezzell Hunter,Stephanie A. Irving,et al.

2016151 citations

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Tamara S. Roman,Stephanie B. Crowley,et al.

2020119 citations

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Daniel S. Marchuk,Kristy Crooks,et al.

201899 citations

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

Laura V. Milko,Julianne O’Daniel,et al.

201983 citations