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Author Details

Erin Rooney Riggs
Geisinger Autism & Developmental Medicine Institute
2012
29
16
PMIDPaper TitleJournal TitlePublished Year
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
38054408Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.Genet Med2024
36507974Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
37261438Response to Spurdle et al.Genet Med2023
34694049Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Hum Mutat2022
35616647Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.Genet Med2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
34007001Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genet Med2021
33731880Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).Genet Med2021
31690835Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).Genet Med2020
31754268Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.Genet Med2020
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
29130143Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.J Genet Couns2018
30095202Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.Hum Mutat2018
30311377The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.Hum Mutat2018
30311371ClinGen's GenomeConnect registry enables patient-centered data sharing.Hum Mutat2018
29437798Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.Cold Spring Harb Mol Case Stud2018
28552198Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Am J Hum Genet2017
27037489Using ClinVar as a Resource to Support Variant Interpretation.Curr Protoc Hum Genet2016
26178529GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.Hum Mutat2015
23347240Chromosomal microarray impacts clinical management.Clin Genet2014
25152847Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.Curr Genet Med Rep2014
24217912The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.Nucleic Acids Res2014
23463607Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.Hum Mutat2013
22097934Towards an evidence-based process for the clinical interpretation of copy number variation.Clin Genet2012
22331816Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.Hum Mutat2012
22610653The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.J Genet Couns2012
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Collaborators

Christa Lese Martin
Autism and Developmental Medicine Institute
Co-authored papers 21
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 14
Danielle R Azzariti
Broad Institute of Harvard and MIT
Co-authored papers 8
Erin M Ramos
National Human Genome Research Institute
Co-authored papers 7
David H Ledbetter
University of Florida, College of Medicine-Jacksonville
Co-authored papers 7
William A Faucett
Genomic Medicine Institute
Co-authored papers 6
Jonathan S Berg
University of North Carolina
Co-authored papers 5
Marina T DiStefano
Broad Institute of MIT and Harvard
Co-authored papers 5
Deborah I Ritter
Baylor College of Medicine
Co-authored papers 4
Gordana Raca
Children's Hospital Los Angeles
Co-authored papers 4
David T Miller
Boston Children's Hospital
Co-authored papers 4
Sarah T South
Co-authored papers 3
Joanna S Amberger
Johns Hopkins University School of Medicine
Co-authored papers 3
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 3
Daniel E Pineda-Alvarez
Invitae Corporation
Co-authored papers 3
Helen V Firth
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Co-authored papers 3
Jennifer L Goldstein
University of North Carolina at Chapel Hill
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Angharad M Roberts
National Heart and Lung Institute, Imperial College London
Co-authored papers 3
James S Ware
Co-authored papers 3
Courtney Thaxton
University of North Carolina at Chapel Hill
Co-authored papers 3
Zornitza Stark
Murdoch Children's Research Institute
Co-authored papers 3
Melissa J Landrum
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 3
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 3
Karen Eilbeck
University of Utah
Co-authored papers 2
Laird G Jackson
The Children's Hospital of Philadelphia
Co-authored papers 2
Ana Rath
INSERM
Co-authored papers 2
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 2
Laura Lyman Rodriguez
Patient-Centered Outcomes Research Institute
Co-authored papers 2
Steven Van Vooren
Katholieke Universiteit Leuven
Co-authored papers 2
Fiona Cunningham
European Bioinformatics Institute
Co-authored papers 2
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