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Daniel G MacArthur

Showing results (51-60 of 216) with videos related to

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Science (New York, N.Y.)|March 3, 2018
Quantitative analysis of population-scale family trees with millions of relativesJoanna Kaplanis, Assaf Gordon, Tal Shor, et al.
Nature Communications|November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Experimental Gerontology|November 30, 2010
The effect of α-actinin-3 deficiency on muscle agingJane T Seto, Stephen Chan, Nigel Turner, et al.
Human Genetics|September 10, 2011
High altitude adaptation in Daghestani populations from the CaucasusLuca Pagani, Qasim Ayub, Daniel G MacArthur, et al.
European Journal of Human Genetics : EJHG|September 28, 2019
Severe neurodevelopmental disease caused by a homozygous TLK2 variantAna Töpf, Yavuz Oktay, Sunitha Balaraju, et al.
Human Molecular Genetics|December 19, 2015
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionMarshall W Hogarth, Fleur C Garton, Peter J Houweling, et al.
Cell Stem Cell|February 17, 2022
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variationFlorian T Merkle, Sulagna Ghosh, Giulio Genovese, et al.
Nature Communications|June 8, 2021
Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLsQingbo S Wang, David R Kelley, Jacob Ulirsch, et al.
Nature Genetics|November 28, 2018
Reply to 'Selective effects of heterozygous protein-truncating variants'Christopher A Cassa, Donate Weghorn, Daniel J Balick, et al.
Nature Reviews. Genetics|April 5, 2012
From patients to partners: participant-centric initiatives in biomedical researchJane Kaye, Liam Curren, Nick Anderson, et al.
Pageof 22

Showing results (51-60 of 216) with videos related to

Sort By:
Pageof 22
Science (New York, N.Y.)|March 3, 2018
Quantitative analysis of population-scale family trees with millions of relativesJoanna Kaplanis, Assaf Gordon, Tal Shor, et al.
Nature Communications|November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Experimental Gerontology|November 30, 2010
The effect of α-actinin-3 deficiency on muscle agingJane T Seto, Stephen Chan, Nigel Turner, et al.
Human Genetics|September 10, 2011
High altitude adaptation in Daghestani populations from the CaucasusLuca Pagani, Qasim Ayub, Daniel G MacArthur, et al.
European Journal of Human Genetics : EJHG|September 28, 2019
Severe neurodevelopmental disease caused by a homozygous TLK2 variantAna Töpf, Yavuz Oktay, Sunitha Balaraju, et al.
Human Molecular Genetics|December 19, 2015
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionMarshall W Hogarth, Fleur C Garton, Peter J Houweling, et al.
Cell Stem Cell|February 17, 2022
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variationFlorian T Merkle, Sulagna Ghosh, Giulio Genovese, et al.
Nature Communications|June 8, 2021
Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLsQingbo S Wang, David R Kelley, Jacob Ulirsch, et al.
Nature Genetics|November 28, 2018
Reply to 'Selective effects of heterozygous protein-truncating variants'Christopher A Cassa, Donate Weghorn, Daniel J Balick, et al.
Nature Reviews. Genetics|April 5, 2012
From patients to partners: participant-centric initiatives in biomedical researchJane Kaye, Liam Curren, Nick Anderson, et al.
Pageof 22