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Daniel G MacArthur

Showing results (101-110 of 216) with videos related to

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Nature|February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
American Journal of Human Genetics|January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic ArchitectureNicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
Nature Communications|May 29, 2020
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individualsNicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Nature Communications|February 3, 2021
Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individualsNicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, et al.
European Journal of Human Genetics : EJHG|March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain developmentJulie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Nature|January 10, 2020
A brief history of human disease geneticsMelina Claussnitzer, Judy H Cho, Rory Collins, et al.
Nature|October 13, 2017
Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Pageof 22

Showing results (101-110 of 216) with videos related to

Sort By:
Pageof 22
Nature|February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
American Journal of Human Genetics|January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic ArchitectureNicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
Nature Communications|May 29, 2020
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individualsNicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, et al.
JAMA Neurology|October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedRoula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Nature Communications|February 3, 2021
Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individualsNicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, et al.
European Journal of Human Genetics : EJHG|March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain developmentJulie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Nature|January 10, 2020
A brief history of human disease geneticsMelina Claussnitzer, Judy H Cho, Rory Collins, et al.
Nature|October 13, 2017
Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Pageof 22