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Daniel G MacArthur

Showing results (41-50 of 216) with videos related to

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The Journal of Allergy and Clinical Immunology|September 10, 2016
Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation ConsortiumAttila Kumánovics, Yu Nee Lee, Devin W Close, et al.
Nature Genetics|August 18, 2016
Patterns of genic intolerance of rare copy number variation in 59,898 human exomesDouglas M Ruderfer, Tymor Hamamsy, Monkol Lek, et al.
Genome Biology|August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansionsHarriet Dashnow, Monkol Lek, Belinda Phipson, et al.
Journal of Neuromuscular Diseases|September 10, 2019
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice ModulationYing Hu, Payam Mohassel, Sandra Donkervoort, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Medicine and Science in Sports and Exercise|November 8, 2007
The ACTN3 R577X polymorphism in East and West African athletesNan Yang, Daniel G MacArthur, Bezabhe Wolde, et al.
Nature Communications|February 3, 2021
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nature Communications|May 29, 2020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
Efficient and accurate mixed model association tool for single-cell eQTL analysisWei Zhou, Anna S E Cuomo, Angli Xue, et al.
Biorxiv : the Preprint Server for Biology|June 25, 2024
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.
Pageof 22

Showing results (41-50 of 216) with videos related to

Sort By:
Pageof 22
The Journal of Allergy and Clinical Immunology|September 10, 2016
Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation ConsortiumAttila Kumánovics, Yu Nee Lee, Devin W Close, et al.
Nature Genetics|August 18, 2016
Patterns of genic intolerance of rare copy number variation in 59,898 human exomesDouglas M Ruderfer, Tymor Hamamsy, Monkol Lek, et al.
Genome Biology|August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansionsHarriet Dashnow, Monkol Lek, Belinda Phipson, et al.
Journal of Neuromuscular Diseases|September 10, 2019
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice ModulationYing Hu, Payam Mohassel, Sandra Donkervoort, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Medicine and Science in Sports and Exercise|November 8, 2007
The ACTN3 R577X polymorphism in East and West African athletesNan Yang, Daniel G MacArthur, Bezabhe Wolde, et al.
Nature Communications|February 3, 2021
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nature Communications|May 29, 2020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
Efficient and accurate mixed model association tool for single-cell eQTL analysisWei Zhou, Anna S E Cuomo, Angli Xue, et al.
Biorxiv : the Preprint Server for Biology|June 25, 2024
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.
Pageof 22