Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Emma S Singer

Showing results (1-10 of 14) with videos related to

Pageof 2
Sort By:
Heart, Lung & Circulation|February 8, 2020
Sudden Cardiac Death in the YoungRichard D Bagnall, Emma S Singer, Jacob Tfelt-Hansen
Circulation. Genomic and Precision Medicine|January 16, 2019
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic CardiomyopathyEmma S Singer, Jodie Ingles, Christopher Semsarian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2020
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac deathEmma S Singer, Samantha B Ross, Jon R Skinner, et al.
Circulation. Genomic and Precision Medicine|March 3, 2021
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in <i>MYBPC3</i>Mira Holliday, Emma S Singer, Samantha B Ross, et al.
Journal of the American College of Cardiology|November 24, 2022
Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for FamiliesJulia C Isbister, Natalie Nowak, Laura Yeates, et al.
Stem Cell Research|January 18, 2025
Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2Ginell N Ranpura, Mira Holliday, Serena Li, et al.
Frontiers in Cardiovascular Medicine|March 4, 2026
Case Report: Deletion in the 5' untranslated region of <i>TAFAZZIN</i> in a boy with Barth syndromeEmma S Singer, Janine Smith, Richard Lin, et al.
Stem Cell Research|June 29, 2023
Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variantSerena Li, Stuart Fraser, Ginell Ranpura, et al.
Circulation. Genomic and Precision Medicine|October 17, 2022
Genetic Basis of Childhood CardiomyopathyRichard D Bagnall, Emma S Singer, Julie Wacker, et al.
Human Genome Variation|October 21, 2020
Genetic architecture of left ventricular noncompaction in adultsSamantha Barratt Ross, Emma S Singer, Elizabeth Driscoll, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Heart, Lung & Circulation|February 8, 2020
Sudden Cardiac Death in the YoungRichard D Bagnall, Emma S Singer, Jacob Tfelt-Hansen
Circulation. Genomic and Precision Medicine|January 16, 2019
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic CardiomyopathyEmma S Singer, Jodie Ingles, Christopher Semsarian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2020
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac deathEmma S Singer, Samantha B Ross, Jon R Skinner, et al.
Circulation. Genomic and Precision Medicine|March 3, 2021
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in <i>MYBPC3</i>Mira Holliday, Emma S Singer, Samantha B Ross, et al.
Journal of the American College of Cardiology|November 24, 2022
Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for FamiliesJulia C Isbister, Natalie Nowak, Laura Yeates, et al.
Stem Cell Research|January 18, 2025
Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2Ginell N Ranpura, Mira Holliday, Serena Li, et al.
Frontiers in Cardiovascular Medicine|March 4, 2026
Case Report: Deletion in the 5' untranslated region of <i>TAFAZZIN</i> in a boy with Barth syndromeEmma S Singer, Janine Smith, Richard Lin, et al.
Stem Cell Research|June 29, 2023
Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variantSerena Li, Stuart Fraser, Ginell Ranpura, et al.
Circulation. Genomic and Precision Medicine|October 17, 2022
Genetic Basis of Childhood CardiomyopathyRichard D Bagnall, Emma S Singer, Julie Wacker, et al.
Human Genome Variation|October 21, 2020
Genetic architecture of left ventricular noncompaction in adultsSamantha Barratt Ross, Emma S Singer, Elizabeth Driscoll, et al.
Pageof 2