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Beryl B Cummings

Showing results (21-30 of 39) with videos related to

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Lancet (London, England)|May 18, 2025
Safety and efficacy of a novel ANGPTL4 inhibitory antibody for lipid lowering: results from phase 1 and phase 1b/2a clinical studiesBeryl B Cummings, Mark P Joing, Page R Bouchard, 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.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Science Translational Medicine|January 17, 2024
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disordersJulie C Ullman, Kevin T Mellem, Yannan Xi, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Lancet (London, England)|May 18, 2025
Safety and efficacy of a novel ANGPTL4 inhibitory antibody for lipid lowering: results from phase 1 and phase 1b/2a clinical studiesBeryl B Cummings, Mark P Joing, Page R Bouchard, 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.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Science Translational Medicine|January 17, 2024
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disordersJulie C Ullman, Kevin T Mellem, Yannan Xi, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Pageof 4