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Journal of the American Medical Informatics Association : JAMIA
|
September 10, 2013
A novel clinician interface to improve clinician access to up-to-date genetic results
Allison R Wilcox, Pamela M Neri, Lynn A Volk, et al.
Current Protocols in Human Genetics
|
April 3, 2016
Using ClinVar as a Resource to Support Variant Interpretation
Steven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 27, 2013
ACMG clinical laboratory standards for next-generation sequencing
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, et al.
Neurology. Genetics
|
April 24, 2023
Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report
Chiara Folland, Vijay Ganesh, Ben Weisburd, et al.
Nature Genetics
|
October 30, 2024
Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates
Peter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
Applied Clinical Informatics
|
July 21, 2016
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates
Stephanie Klinkenberg-Ramirez, Pamela M Neri, Lynn A Volk, et al.
NPJ Genomic Medicine
|
March 28, 2024
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Vaidehi Jobanputra, Brock Schroeder, Heidi L Rehm, et al.
Genetics in Medicine Open
|
December 13, 2024
A pooled electronic consultation program to improve access to genetics specialists
Emma K Folkerts, Renée C Pelletier, Daniel C Chung, et al.
Nature Communications
|
November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology
|
February 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X Chong, Seth I Berger, Samantha Baxter, et al.
Page
of 35
Search research articles
Search
Showing results (131-140 of 342) with videos related to
Sort By:
Page
of 35
Journal of the American Medical Informatics Association : JAMIA
|
September 10, 2013
A novel clinician interface to improve clinician access to up-to-date genetic results
Allison R Wilcox, Pamela M Neri, Lynn A Volk, et al.
Current Protocols in Human Genetics
|
April 3, 2016
Using ClinVar as a Resource to Support Variant Interpretation
Steven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 27, 2013
ACMG clinical laboratory standards for next-generation sequencing
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, et al.
Neurology. Genetics
|
April 24, 2023
Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report
Chiara Folland, Vijay Ganesh, Ben Weisburd, et al.
Nature Genetics
|
October 30, 2024
Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates
Peter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
Applied Clinical Informatics
|
July 21, 2016
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates
Stephanie Klinkenberg-Ramirez, Pamela M Neri, Lynn A Volk, et al.
NPJ Genomic Medicine
|
March 28, 2024
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Vaidehi Jobanputra, Brock Schroeder, Heidi L Rehm, et al.
Genetics in Medicine Open
|
December 13, 2024
A pooled electronic consultation program to improve access to genetics specialists
Emma K Folkerts, Renée C Pelletier, Daniel C Chung, et al.
Nature Communications
|
November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology
|
February 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X Chong, Seth I Berger, Samantha Baxter, et al.
Page
of 35