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Author Details

Erin M Ramos
National Human Genome Research Institute
2004
51
27
PMIDPaper TitleJournal TitlePublished Year
36935055The PhenX Toolkit: Measurement Protocols for Assessment of Social Determinants of Health.Am J Prev Med2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
36050327Identifying Datasets for Cross-Study Analysis in dbGaP using PhenX.Sci Data2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35341655ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.Genet Med2022
35485600A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.J Am Med Inform Assoc2022
36459977Genomic Medicine Year in Review: 2022.Am J Hum Genet2022
33972721Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.Genet Med2021
34861172Genomic medicine year in review: 2021.Am J Hum Genet2021
34038028Using the PhenX Toolkit to Select Standard Measurement Protocols for Your Research Study.Curr Protoc2021
29899502Development of a consent resource for genomic data sharing in the clinical setting.Genet Med2019
30181607Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.Genet Med2019
29437798Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.Cold Spring Harb Mol Case Stud2018
30311389ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Hum Mutat2018
30311382Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.Hum Mutat2018
30311373The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.Hum Mutat2018
27899644The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data.Nucleic Acids Res2017
28340351Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Cell2017
28552198Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Am J Hum Genet2017
28578176Research standardization tools: pregnancy measures in the PhenX Toolkit.Am J Obstet Gynecol2017
27037489Using ClinVar as a Resource to Support Variant Interpretation.Curr Protoc Hum Genet2016
26418054Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.Clin Pharmacol Ther2016
27124788A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.Genet Med2016
26014595ClinGen--the Clinical Genome Resource.N Engl J Med2015
26132000Using the PhenX Toolkit to Add Standard Measures to a Study.Curr Protoc Hum Genet2015
23695286Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources.Eur J Hum Genet2014
25162809Data use under the NIH GWAS data sharing policy and future directions.Nat Genet2014
24954640Data compatibility in the addiction sciences: an examination of measure commonality.Drug Alcohol Depend2014
24634402Characterizing genetic variants for clinical action.Am J Med Genet C Semin Med Genet2014
24650325PhenX RISING: real world implementation and sharing of PhenX measures.BMC Med Genomics2014
23561843A mechanism for controlled access to GWAS data: experience of the GAIN Data Access Committee.Am J Hum Genet2013
22147673Next generation analytic tools for large scale genetic epidemiology studies of complex diseases.Genet Epidemiol2012
22954959The PhenX Toolkit pregnancy and birth collections.Ann Epidemiol2012
22868939Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.Arch Gen Psychiatry2012
22524403CHRNB3 is more strongly associated with Fagerström test for cigarette dependence-based nicotine dependence than cigarettes per day: phenotype definition changes genome-wide association studies results.Addiction2012
22516489Physical activity and physical fitness: standardizing assessment with the PhenX Toolkit.Am J Prev Med2012
22361898Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.Genet Med2012
22415805Using PhenX measures to identify opportunities for cross-study analysis.Hum Mutat2012
21284036Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience.Genet Epidemiol2011
21975939Using the PhenX Toolkit to Add Standard Measures to a Study.Curr Protoc Hum Genet2011
21632745Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience.Genome Res2011
21749974The PhenX Toolkit: get the most from your measures.Am J Epidemiol2011
20733502Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium.Genet Med2010
19474294Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.Proc Natl Acad Sci U S A2009
19812666Finding the missing heritability of complex diseases.Nature2009
18809886Unravelling the contributions of social, environmental and genetic factors to health differences.CMAJ2008
17804958The National Alzheimer's Coordinating Center (NACC) database: the Uniform Data Set.Alzheimer Dis Assoc Disord2007
17984455An alternative method for estimating efficacy of the AN1792 vaccine for Alzheimer disease.Neurology2007
16908746Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease.Arch Neurol2006
17132964The Uniform Data Set (UDS): clinical and cognitive variables and descriptive data from Alzheimer Disease Centers.Alzheimer Dis Assoc Disord2006
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Collaborators

Carol M Hamilton
and Translation Research Center
Co-authored papers 11
Christa Lese Martin
Autism and Developmental Medicine Institute
Co-authored papers 11
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 9
Teri A Manolio
National Human Genome Research Institute
Co-authored papers 9
Marc S Williams
University of Washington Medical Center
Co-authored papers 9
Jonathan S Berg
University of North Carolina
Co-authored papers 8
Laura Lyman Rodriguez
Patient-Centered Outcomes Research Institute
Co-authored papers 7
Erin Rooney Riggs
Geisinger Autism & Developmental Medicine Institute
Co-authored papers 7
Wayne Huggins
and Translation Research Center
Co-authored papers 7
Stephen T Sherry
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 6
Eric D Green
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
Huaqin Pan
and Translational Research Center
Co-authored papers 6
Catherine A McCarty
University of Minnesota Medical School, 1035 University Drive duluth
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Deborah R Maiese
Co-authored papers 5
Sharon E Plon
Baylor College of Medicine
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Rex L Chisholm
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University
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Kristy Lee
The University of North Carolina at Chapel Hill
Co-authored papers 5
Danielle R Azzariti
Broad Institute of Harvard and MIT
Co-authored papers 5
Mary L Marazita
Center for Craniofacial and Dental Genetics, University of Pittsburgh
Co-authored papers 5
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 5
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Adam H Buchanan
Genomic Medicine Institute, Geisinger Medical Center
Co-authored papers 4
Lucia A Hindorff
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
Donna R Maglott
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 4
Stephanie M Fullerton
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Barbara A Koenig
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Marylyn D Ritchie
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Release 1.2