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American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 27, 2024
Lethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodes
Michael J Topper, Joseph W Guarnieri, Jeffrey A Haltom, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits
Emma C Johnson, Dongbing Lai, Alex P Miller, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Cell Reports
|
March 16, 2022
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Psychological Medicine
|
August 20, 2025
Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits
Emma C Johnson, Dongbing Lai, Jared V Balbona, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
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Search research articles
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Showing results (511-520 of 531) with videos related to
Sort By:
Page
of 54
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 27, 2024
Lethal COVID-19 associates with RAAS-induced inflammation for multiple organ damage including mediastinal lymph nodes
Michael J Topper, Joseph W Guarnieri, Jeffrey A Haltom, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits
Emma C Johnson, Dongbing Lai, Alex P Miller, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Cell Reports
|
March 16, 2022
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Psychological Medicine
|
August 20, 2025
Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits
Emma C Johnson, Dongbing Lai, Jared V Balbona, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Page
of 54