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Daniel G MacArthur

Showing results (161-170 of 216) with videos related to

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Neuron|January 29, 2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersElaine T Lim, Soumya Raychaudhuri, Stephan J Sanders, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Blood Cancer Discovery|September 27, 2021
<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicingEllen M Beauchamp, Matthew Leventhal, Elsa Bernard, et al.
Nature|April 14, 2017
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinityDanish Saleheen, Pradeep Natarajan, Irina M Armean, et al.
Science (New York, N.Y.)|October 5, 2013
Integrative annotation of variants from 1092 humans: application to cancer genomicsEkta Khurana, Yao Fu, Vincenza Colonna, et al.
Nature|December 6, 2023
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.
Nature|January 15, 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Pageof 22

Showing results (161-170 of 216) with videos related to

Sort By:
Pageof 22
Neuron|January 29, 2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersElaine T Lim, Soumya Raychaudhuri, Stephan J Sanders, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Blood Cancer Discovery|September 27, 2021
<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicingEllen M Beauchamp, Matthew Leventhal, Elsa Bernard, et al.
Nature|April 14, 2017
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinityDanish Saleheen, Pradeep Natarajan, Irina M Armean, et al.
Science (New York, N.Y.)|October 5, 2013
Integrative annotation of variants from 1092 humans: application to cancer genomicsEkta Khurana, Yao Fu, Vincenza Colonna, et al.
Nature|December 6, 2023
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.
Nature|January 15, 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Pageof 22