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Christa L Martin

Showing results (51-60 of 68) with videos related to

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JAMA Psychiatry|December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletionsAndres Moreno-De-Luca, David W Evans, K B Boomer, et al.
Health Affairs (Project Hope)|May 8, 2018
Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine ExperienceMarc S Williams, Adam H Buchanan, F Daniel Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variantRaphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2020
Clinical outcomes of a genomic screening program for actionable genetic conditionsAdam H Buchanan, H Lester Kirchner, Marci L B Schwartz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
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 mechanismsAngharad 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 ResourceNatasha T Strande, Erin Rooney Riggs, Adam H Buchanan, 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 mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Biological Psychiatry|July 28, 2014
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained populationEllen Hanson, Raphael Bernier, Ken Porche, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
JAMA Psychiatry|December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletionsAndres Moreno-De-Luca, David W Evans, K B Boomer, et al.
Health Affairs (Project Hope)|May 8, 2018
Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine ExperienceMarc S Williams, Adam H Buchanan, F Daniel Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variantRaphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2020
Clinical outcomes of a genomic screening program for actionable genetic conditionsAdam H Buchanan, H Lester Kirchner, Marci L B Schwartz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
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 mechanismsAngharad 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 ResourceNatasha T Strande, Erin Rooney Riggs, Adam H Buchanan, 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 mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Biological Psychiatry|July 28, 2014
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained populationEllen Hanson, Raphael Bernier, Ken Porche, et al.
Pageof 7