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Nature Medicine
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September 5, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Heidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, et al.
American Journal of Human Genetics
|
May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M Amendola, Gail P Jarvik, Michael C Leo, et al.
American Journal of Human Genetics
|
July 9, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Molecular Genetics & Genomic Medicine
|
August 23, 2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience
Kathryn M Porter, Tia L Kauffman, Barbara A Koenig, et al.
Genome Medicine
|
January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
Christine G Preston, Matt W Wright, Rao Madhavrao, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2014
Characterizing genetic variants for clinical action
Erin M Ramos, Corina Din-Lovinescu, Jonathan S Berg, et al.
Nature Genetics
|
November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics
|
September 8, 2018
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
Laura M Amendola, Jonathan S Berg, Carol R Horowitz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
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of 17
Search research articles
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Showing results (151-160 of 168) with videos related to
Sort By:
Page
of 17
Nature Medicine
|
September 5, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Heidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, et al.
American Journal of Human Genetics
|
May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M Amendola, Gail P Jarvik, Michael C Leo, et al.
American Journal of Human Genetics
|
July 9, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Molecular Genetics & Genomic Medicine
|
August 23, 2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience
Kathryn M Porter, Tia L Kauffman, Barbara A Koenig, et al.
Genome Medicine
|
January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
Christine G Preston, Matt W Wright, Rao Madhavrao, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 18, 2014
Characterizing genetic variants for clinical action
Erin M Ramos, Corina Din-Lovinescu, Jonathan S Berg, et al.
Nature Genetics
|
November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics
|
September 8, 2018
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
Laura M Amendola, Jonathan S Berg, Carol R Horowitz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Page
of 17