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Daniel G MacArthur

Showing results (31-40 of 216) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|December 13, 2017
Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated lociSamuel Lessard, Laurent Francioli, Jessica Alfoldi, et al.
Journal of Personalized Medicine|January 26, 2016
An eMERGE Clinical Center at Partners Personalized MedicineJordan W Smoller, Elizabeth W Karlson, Robert C Green, et al.
Genome Research|May 30, 2023
Discordant calls across genotype discovery approaches elucidate variants with systematic errorsElizabeth G Atkinson, Mykyta Artomov, Alexander A Loboda, et al.
Human Mutation|December 3, 2021
Variant interpretation using population databases: Lessons from gnomADSanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
European Journal of Human Genetics : EJHG|October 13, 2006
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent GreeksColin N Moran, Nan Yang, Mark E S Bailey, et al.
Genome Research|June 3, 2018
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotidesSidi Zhang, Kaitlin E Samocha, Manuel A Rivas, et al.
Neuromuscular Disorders : NMD|June 19, 2018
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pairSonja Strang-Karlsson, Katherine Johnson, Ana Töpf, et al.
Nature Genetics|July 29, 2024
Guidance for estimating penetrance of monogenic disease-causing variants in population cohortsCaroline F Wright, Luke N Sharp, Leigh Jackson, et al.
American Journal of Human Genetics|December 2, 2022
A minimal role for synonymous variation in human diseaseRyan S Dhindsa, Quanli Wang, Dimitrios Vitsios, et al.
Neuromuscular Disorders : NMD|April 26, 2020
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patientsMagdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, et al.
Pageof 22

Showing results (31-40 of 216) with videos related to

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Pageof 22
Proceedings of the National Academy of Sciences of the United States of America|December 13, 2017
Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated lociSamuel Lessard, Laurent Francioli, Jessica Alfoldi, et al.
Journal of Personalized Medicine|January 26, 2016
An eMERGE Clinical Center at Partners Personalized MedicineJordan W Smoller, Elizabeth W Karlson, Robert C Green, et al.
Genome Research|May 30, 2023
Discordant calls across genotype discovery approaches elucidate variants with systematic errorsElizabeth G Atkinson, Mykyta Artomov, Alexander A Loboda, et al.
Human Mutation|December 3, 2021
Variant interpretation using population databases: Lessons from gnomADSanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
European Journal of Human Genetics : EJHG|October 13, 2006
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent GreeksColin N Moran, Nan Yang, Mark E S Bailey, et al.
Genome Research|June 3, 2018
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotidesSidi Zhang, Kaitlin E Samocha, Manuel A Rivas, et al.
Neuromuscular Disorders : NMD|June 19, 2018
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pairSonja Strang-Karlsson, Katherine Johnson, Ana Töpf, et al.
Nature Genetics|July 29, 2024
Guidance for estimating penetrance of monogenic disease-causing variants in population cohortsCaroline F Wright, Luke N Sharp, Leigh Jackson, et al.
American Journal of Human Genetics|December 2, 2022
A minimal role for synonymous variation in human diseaseRyan S Dhindsa, Quanli Wang, Dimitrios Vitsios, et al.
Neuromuscular Disorders : NMD|April 26, 2020
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patientsMagdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, et al.
Pageof 22