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Sandra T Cooper

Showing results (81-90 of 97) with videos related to

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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.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, 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.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, 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.
Blood Advances|April 25, 2024
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansionParvathy Venugopal, Peer Arts, Lucy C Fox, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
Pageof 10

Showing results (81-90 of 97) with videos related to

Sort By:
Pageof 10
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.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, 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.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, 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.
Blood Advances|April 25, 2024
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansionParvathy Venugopal, Peer Arts, Lucy C Fox, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
Pageof 10