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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
American Journal of Human Genetics
|
May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
Journal of Clinical and Translational Science
|
May 5, 2021
Lessons learned about harmonizing survey measures for the CSER consortium
Katrina A B Goddard, Frank A N Angelo, Sara L Ackerman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
Lilian Downie, Julie Yeo, Thomas Minten, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 6, 2018
Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays
Catherine C Coombs, Nancy K Gillis, Xianming Tan, et al.
American Journal of Human Genetics
|
May 13, 2014
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, et al.
American Journal of Human Genetics
|
August 28, 2020
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
Tamara S Roman, Stephanie B Crowley, Myra I Roche, et al.
Annual Review of Biomedical Data Science
|
April 25, 2024
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms
Matt W Wright, Courtney L Thaxton, Tristan Nelson, et al.
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of 17
Search research articles
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Showing results (141-150 of 168) with videos related to
Sort By:
Page
of 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
American Journal of Human Genetics
|
May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
Journal of Clinical and Translational Science
|
May 5, 2021
Lessons learned about harmonizing survey measures for the CSER consortium
Katrina A B Goddard, Frank A N Angelo, Sara L Ackerman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 1, 2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
Lilian Downie, Julie Yeo, Thomas Minten, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 6, 2018
Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays
Catherine C Coombs, Nancy K Gillis, Xianming Tan, et al.
American Journal of Human Genetics
|
May 13, 2014
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, et al.
American Journal of Human Genetics
|
August 28, 2020
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
Tamara S Roman, Stephanie B Crowley, Myra I Roche, et al.
Annual Review of Biomedical Data Science
|
April 25, 2024
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms
Matt W Wright, Courtney L Thaxton, Tristan Nelson, et al.
Page
of 17