E. Riggs

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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)

S. South, Ankita Patel, E. Thorland, 2019, Genetics in Medicine.

The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

Annapurna Poduri, Bekim Sadikovic, Erin Rooney Riggs, 2018, Human mutation.

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities

C. Martin, E. Riggs, W. Faucett, 2018, Journal of Genetic Counseling.

Chromosomal microarray impacts clinical management

David T. Miller, E. Thorland, E. Riggs, 2014, Clinical genetics.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Heidi L. Rehm, Erin Rooney Riggs, 2017, bioRxiv.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

Steven Van Vooren, S. van Vooren, David T. Miller, 2012, Human mutation.

The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing

E. Riggs, W. Faucett, K. Wain, 2012, Journal of Genetic Counseling.

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Marina T. DiStefano, H. Rehm, E. Thorland, 2021, Human mutation.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Tam P. Sneddon, Andrew R. Grant, C. Betancur, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical Applications of Whole-Genome Chromosomal Microarray Analysis

D. Ledbetter, C. Martin, E. Riggs, 2013 .

Points 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).

Joshua L. Deignan, E. Thorland, E. Riggs, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Danielle R Azzariti, B. Lepore, Julianne M. O’Daniel, 2019, Genetics in Medicine.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin R Riggs, Christa L Martin, E. Thorland, 2018, Human mutation.

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis

D. Ledbetter, C. Martin, E. Riggs, 2014, Current Genetic Medicine Reports.

Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

Danielle R Azzariti, D. Ledbetter, H. Rehm, 2021, Genetics in Medicine.

Using ClinVar as a Resource to Support Variant Interpretation

Annie Niehaus, Heidi L Rehm, Danielle R Azzariti, 2016, Current protocols in human genetics.

Launch of the gene curation coalition database

Fiona Cunningham, Ewan Birney, Heidi L. Rehm, 2021 .

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

N. Mulder, E. Tobias, B. Korf, 2021, Genetics in Medicine.

Correction: 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)

S. South, Ankita Patel, E. Thorland, 2021, Genetics in Medicine.

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Tudor Groza, Damian Smedley, Simon Jupp, 2019, Nucleic Acids Res..

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2022, Genome Medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2021, medRxiv.

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Darlene Riethmaier, Erin Rooney Riggs, Heidi L Rehm, 2013, Human mutation.

Response to Maya et al.

S. South, Ankita Patel, E. Thorland, 2020, Genetics in Medicine.

ClinGen's GenomeConnect registry enables patient‐centered data sharing

Danielle R Azzariti, D. Ledbetter, H. Rehm, 2018, Human mutation.

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Erin Rooney Riggs, Danielle R Azzariti, Heidi Rehm, 2015, Human mutation.

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

Heidi L. Rehm, Danielle R. Azzariti, Erin M. Ramos, 2018, Genetics in Medicine.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Carol A. Bocchini, Marina T. DiStefano, E. Birney, 2022, medRxiv.

Variant Interpretation is a Component of Clinical Practice Among Genetic Counselors in Multiple Specialties

Danielle R Azzariti, B. Lepore, C. Martin, 2019, Genetics in Medicine.

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

Danielle R Azzariti, H. Rehm, B. Knoppers, 2018, Genetics in Medicine.

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Melissa J. Landrum, Heidi L. Rehm, Danielle R. Azzariti, 2018, Cold Spring Harbor molecular case studies.

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

Marina T. DiStefano, E. McDonagh, H. Rehm, 2023, medRxiv.

Response to Spurdle et al.

S. South, E. Thorland, E. Riggs, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Towards an evidence‐based process for the clinical interpretation of copy number variation

E. Thorland, E. Riggs, S. Aradhya, 2012, Clinical genetics.

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

Heidi L. Rehm, Danielle R. Azzariti, Erin Rooney Riggs, 2018, Genetics in Medicine.

Rothamsted Repository Download

Zoe May Pendlington, Julius O. B. Jacobsen, Matthew H. Brush, 2022 .

The Brain Gene Registry: a data snapshot

E. Riggs, J. Savatt, C. Gurnett, 2024, Journal of neurodevelopmental disorders.