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David R Murdock

Showing results (31-40 of 48) with videos related to

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Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2025
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomaliesMonika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, et al.
Brain : a Journal of Neurology|October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsLama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic diseaseGeorgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2025
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomaliesMonika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, et al.
Brain : a Journal of Neurology|October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defectsLama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.
Pageof 5