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Daniel G MacArthur

Showing results (141-150 of 216) with videos related to

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European Heart Journal|March 5, 2025
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data setsAlexandra Butters, Kate Thomson, Franki Harrington, et al.
Cell|July 23, 2013
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genesJacqueline K White, Anna-Karin Gerdin, Natasha A Karp, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Neuron|July 18, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDevPatricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Cell|March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchTeri A Manolio, Douglas M Fowler, Lea M Starita, et al.
Pageof 22

Showing results (141-150 of 216) with videos related to

Sort By:
Pageof 22
European Heart Journal|March 5, 2025
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data setsAlexandra Butters, Kate Thomson, Franki Harrington, et al.
Cell|July 23, 2013
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genesJacqueline K White, Anna-Karin Gerdin, Natasha A Karp, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Neuron|July 18, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDevPatricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
Cell|March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchTeri A Manolio, Douglas M Fowler, Lea M Starita, et al.
Pageof 22