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Daniel G MacArthur

Showing results (131-140 of 216) with videos related to

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Nature|October 9, 2009
Origins and functional impact of copy number variation in the human genomeDonald F Conrad, Dalila Pinto, Richard Redon, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Nature Genetics|August 4, 2014
A framework for the interpretation of de novo mutation in human diseaseKaitlin E Samocha, Elise B Robinson, Stephan J Sanders, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, 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.
Nature Communications|September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Journal of the American Society of Nephrology : JASN|July 1, 2018
<i>GAPVD1</i> and <i>ANKFY1</i> Mutations Implicate RAB5 Regulation in Nephrotic SyndromeTobias Hermle, Ronen Schneider, David Schapiro, 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.
Pageof 22

Showing results (131-140 of 216) with videos related to

Sort By:
Pageof 22
Nature|October 9, 2009
Origins and functional impact of copy number variation in the human genomeDonald F Conrad, Dalila Pinto, Richard Redon, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Nature Genetics|August 4, 2014
A framework for the interpretation of de novo mutation in human diseaseKaitlin E Samocha, Elise B Robinson, Stephan J Sanders, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, 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.
Nature Communications|September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersArthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Journal of the American Society of Nephrology : JASN|July 1, 2018
<i>GAPVD1</i> and <i>ANKFY1</i> Mutations Implicate RAB5 Regulation in Nephrotic SyndromeTobias Hermle, Ronen Schneider, David Schapiro, 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.
Pageof 22