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American Journal of Human Genetics
|
June 6, 2023
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Robert C Green, Nidhi Shah, Casie A Genetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 23, 2015
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Ahmed A Alfares, Melissa A Kelly, Gregory McDermott, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 14, 2023
Decoding Genetics, Ancestry, and Geospatial Context for Precision Health
Satoshi Koyama, Ying Wang, Kaavya Paruchuri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 4, 2015
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Ahmed A Alfares, Melissa A Kelly, Gregory McDermott, 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.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report
Jaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Journal of the American College of Cardiology
|
April 29, 2026
Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions
Anika Misra, Amanda Jowell, Sara Haidermota, et al.
Genome Medicine
|
October 7, 2022
Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization
Anna C F Lewis, Emma F Perez, Anya E R Prince, 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.
Nature Medicine
|
April 19, 2022
Development of a clinical polygenic risk score assay and reporting workflow
Limin Hao, Peter Kraft, Gabriel F Berriz, et al.
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of 7
Search research articles
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Showing results (41-50 of 69) with videos related to
Sort By:
Page
of 7
American Journal of Human Genetics
|
June 6, 2023
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Robert C Green, Nidhi Shah, Casie A Genetti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 23, 2015
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Ahmed A Alfares, Melissa A Kelly, Gregory McDermott, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 14, 2023
Decoding Genetics, Ancestry, and Geospatial Context for Precision Health
Satoshi Koyama, Ying Wang, Kaavya Paruchuri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 4, 2015
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Ahmed A Alfares, Melissa A Kelly, Gregory McDermott, 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.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report
Jaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Journal of the American College of Cardiology
|
April 29, 2026
Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions
Anika Misra, Amanda Jowell, Sara Haidermota, et al.
Genome Medicine
|
October 7, 2022
Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization
Anna C F Lewis, Emma F Perez, Anya E R Prince, 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.
Nature Medicine
|
April 19, 2022
Development of a clinical polygenic risk score assay and reporting workflow
Limin Hao, Peter Kraft, Gabriel F Berriz, et al.
Page
of 7