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Current Genetic Medicine Reports
|
August 26, 2014
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
Erin Rooney Riggs, David H Ledbetter, Christa Lese Martin
Human Mutation
|
February 15, 2012
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience
Erin Rooney Riggs, Laird Jackson, David T Miller, et al.
Journal of Genetic Counseling
|
November 14, 2017
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities
Heather Mae Rocha, Juliann M Savatt, Erin Rooney Riggs, et al.
Genes
|
April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental Disorder
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2021
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Juliann M Savatt, Danielle R Azzariti, David H Ledbetter, et al.
Cold Spring Harbor Molecular Case Studies
|
February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar
Danielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2018
Development of a consent resource for genomic data sharing in the clinical setting
Erin Rooney Riggs, Danielle R Azzariti, Annie Niehaus, et al.
Human Mutation
|
July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge
Brianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Human Mutation
|
March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting
Erin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2022
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)
Gordana Raca, Caroline Astbury, Andrea Behlmann, et al.
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Search research articles
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Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
Current Genetic Medicine Reports
|
August 26, 2014
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
Erin Rooney Riggs, David H Ledbetter, Christa Lese Martin
Human Mutation
|
February 15, 2012
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience
Erin Rooney Riggs, Laird Jackson, David T Miller, et al.
Journal of Genetic Counseling
|
November 14, 2017
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities
Heather Mae Rocha, Juliann M Savatt, Erin Rooney Riggs, et al.
Genes
|
April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental Disorder
Ineke Cordova, Alyssa Blesson, Juliann M Savatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2021
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Juliann M Savatt, Danielle R Azzariti, David H Ledbetter, et al.
Cold Spring Harbor Molecular Case Studies
|
February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar
Danielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2018
Development of a consent resource for genomic data sharing in the clinical setting
Erin Rooney Riggs, Danielle R Azzariti, Annie Niehaus, et al.
Human Mutation
|
July 17, 2015
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge
Brianne E Kirkpatrick, Erin Rooney Riggs, Danielle R Azzariti, et al.
Human Mutation
|
March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting
Erin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2022
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)
Gordana Raca, Caroline Astbury, Andrea Behlmann, et al.
Page
of 3