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Frontiers in Genetics
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June 13, 2022
A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System
Laney K Jones, Natasha T Strande, Evan M Calvo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Journal of Medical Genetics
|
April 30, 2025
Rare missense variants in <i>FNDC1</i> are associated with severe adolescent idiopathic scoliosis
Wu-Lin Charng, Gabe Haller, Julia Whittle, et al.
JAMA Network Open
|
March 17, 2025
Genomic Screening at a Single Health System
Juliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
Journal of the American Heart Association
|
June 29, 2023
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening
Samuel S Gidding, H Lester Kirchner, Andrew Brangan, et al.
JAMA
|
January 24, 2023
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
David B Beck, Dale L Bodian, Vandan Shah, et al.
HGG Advances
|
October 1, 2023
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
Kelvin C de Andrade, Natasha T Strande, Jung Kim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2015
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing
Jonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, et al.
The Journal of Pediatrics
|
March 11, 2019
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
Laura V Milko, Julianne M O'Daniel, Daniela M DeCristo, 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.
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of 4
Search research articles
Search
Showing results (21-30 of 35) with videos related to
Sort By:
Page
of 4
Frontiers in Genetics
|
June 13, 2022
A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System
Laney K Jones, Natasha T Strande, Evan M Calvo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing
Marissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
Journal of Medical Genetics
|
April 30, 2025
Rare missense variants in <i>FNDC1</i> are associated with severe adolescent idiopathic scoliosis
Wu-Lin Charng, Gabe Haller, Julia Whittle, et al.
JAMA Network Open
|
March 17, 2025
Genomic Screening at a Single Health System
Juliann M Savatt, Melissa A Kelly, Amy C Sturm, et al.
Journal of the American Heart Association
|
June 29, 2023
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening
Samuel S Gidding, H Lester Kirchner, Andrew Brangan, et al.
JAMA
|
January 24, 2023
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population
David B Beck, Dale L Bodian, Vandan Shah, et al.
HGG Advances
|
October 1, 2023
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
Kelvin C de Andrade, Natasha T Strande, Jung Kim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2015
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing
Jonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, et al.
The Journal of Pediatrics
|
March 11, 2019
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
Laura V Milko, Julianne M O'Daniel, Daniela M DeCristo, 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.
Page
of 4