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Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates
Hana Zouk, Wanfeng Yu, Andrea Oza, et al.
American Journal of Human Genetics
|
November 9, 2021
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization
Carrie L Blout Zawatsky, Nidhi Shah, Kalotina Machini, et al.
Human Mutation
|
June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy
Megan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
American Journal of Human Genetics
|
September 17, 2024
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, et al.
Journal of Biomedical Informatics
|
April 30, 2021
Genomic considerations for FHIR®; eMERGE implementation lessons
Mullai Murugan, Lawrence J Babb, Casey Overby Taylor, et al.
BMC Research Notes
|
March 3, 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Research Square
|
October 4, 2023
Genetic Sex Validation for Sample Tracking in Clinical Testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Circulation. Genomic and Precision Medicine
|
April 18, 2023
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results
Ozan Dikilitas, Alborz Sherafati, Seyedmohammad Saadatagah, et al.
American Journal of Human Genetics
|
October 27, 2020
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Laura M Amendola, Kathleen Muenzen, Leslie G Biesecker, et al.
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of 3
Search research articles
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Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates
Hana Zouk, Wanfeng Yu, Andrea Oza, et al.
American Journal of Human Genetics
|
November 9, 2021
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization
Carrie L Blout Zawatsky, Nidhi Shah, Kalotina Machini, et al.
Human Mutation
|
June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy
Megan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
American Journal of Human Genetics
|
September 17, 2024
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
Hadley Stevens Smith, Bethany Zettler, Casie A Genetti, et al.
Journal of Biomedical Informatics
|
April 30, 2021
Genomic considerations for FHIR®; eMERGE implementation lessons
Mullai Murugan, Lawrence J Babb, Casey Overby Taylor, et al.
BMC Research Notes
|
March 3, 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Research Square
|
October 4, 2023
Genetic Sex Validation for Sample Tracking in Clinical Testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Circulation. Genomic and Precision Medicine
|
April 18, 2023
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results
Ozan Dikilitas, Alborz Sherafati, Seyedmohammad Saadatagah, et al.
American Journal of Human Genetics
|
October 27, 2020
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Laura M Amendola, Kathleen Muenzen, Leslie G Biesecker, et al.
Page
of 3