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Nature Genetics
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March 5, 2021
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Marc Jan Bonder, Craig Smail, Michael J Gloudemans, et al.
Arxiv
|
January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics
|
August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditions
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Science (New York, N.Y.)
|
July 9, 2026
Autonomous biomedical research with an artificial intelligence agent
Kexin Huang, Serena Zhang, Hanchen Wang, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Circulation
|
July 12, 2026
Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy
Yuta Yamamoto, Kaiser Chua, David Staudt, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Circulation. Heart Failure
|
August 1, 2024
Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial
Catherine G Ireland, Danielle S Burstein, Sharlene M Day, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Page
of 20
Search research articles
Search
Showing results (121-130 of 191) with videos related to
Sort By:
Page
of 20
Nature Genetics
|
March 5, 2021
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Marc Jan Bonder, Craig Smail, Michael J Gloudemans, et al.
Arxiv
|
January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics
|
August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditions
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Science (New York, N.Y.)
|
July 9, 2026
Autonomous biomedical research with an artificial intelligence agent
Kexin Huang, Serena Zhang, Hanchen Wang, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Circulation
|
July 12, 2026
Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy
Yuta Yamamoto, Kaiser Chua, David Staudt, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Circulation. Heart Failure
|
August 1, 2024
Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial
Catherine G Ireland, Danielle S Burstein, Sharlene M Day, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Page
of 20