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Showing results (191-200 of 342) with videos related to
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Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
BMC Medical Genetics
|
February 26, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
Heather M McLaughlin, Ozge Ceyhan-Birsoy, Kurt D Christensen, et al.
American Journal of Human Genetics
|
April 6, 2019
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
Yvonne Bombard, Kyle B Brothers, Sara Fitzgerald-Butt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 18, 2010
A novel custom resequencing array for dilated cardiomyopathy
Rebekah S Zimmerman, Stephanie Cox, Neal K Lakdawala, et al.
Nature
|
October 16, 2004
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells
David P Corey, Jaime García-Añoveros, Jeffrey R Holt, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization
Celeste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2026
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Chloe Mighton, Aya Abu-El-Haija, Vimla Aggarwal, et al.
Plos Genetics
|
January 23, 2016
Consent Codes: Upholding Standard Data Use Conditions
Stephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 8, 2013
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
Jonathan S Berg, Laura M Amendola, Christine Eng, et al.
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of 35
Search research articles
Search
Showing results (191-200 of 342) with videos related to
Sort By:
Page
of 35
Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
BMC Medical Genetics
|
February 26, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
Heather M McLaughlin, Ozge Ceyhan-Birsoy, Kurt D Christensen, et al.
American Journal of Human Genetics
|
April 6, 2019
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
Yvonne Bombard, Kyle B Brothers, Sara Fitzgerald-Butt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 18, 2010
A novel custom resequencing array for dilated cardiomyopathy
Rebekah S Zimmerman, Stephanie Cox, Neal K Lakdawala, et al.
Nature
|
October 16, 2004
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells
David P Corey, Jaime García-Añoveros, Jeffrey R Holt, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization
Celeste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2026
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Chloe Mighton, Aya Abu-El-Haija, Vimla Aggarwal, et al.
Plos Genetics
|
January 23, 2016
Consent Codes: Upholding Standard Data Use Conditions
Stephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 8, 2013
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
Jonathan S Berg, Laura M Amendola, Christine Eng, et al.
Page
of 35