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

Mythily Ganapathi

Showing results (31-40 of 50) with videos related to

Pageof 5
Sort By:
Scientific Reports|June 7, 2022
Clinical exome sequencing for inherited retinal degenerations at a tertiary care centerMythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, et al.
Biorxiv : the Preprint Server for Biology|January 13, 2025
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Teresa M Lee, et al.
American Journal of Medical Genetics. Part A|April 9, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature reviewAmanda Thomas-Wilson, John P Schacht, David Chitayat, et al.
American Journal of Human Genetics|January 22, 2019
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderMythily Ganapathi, Leah R Padgett, Kentaro Yamada, et al.
Nature Cardiovascular Research|January 6, 2026
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Esther R Rotlevi, et al.
Human Genetics|June 10, 2020
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesisMythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
American Journal of Medical Genetics. Part A|December 18, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative ReviewElizabeth A VanSickle, Sara M Sarasua, Tracy Lowe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
Scientific Reports|June 7, 2022
Clinical exome sequencing for inherited retinal degenerations at a tertiary care centerMythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, et al.
Biorxiv : the Preprint Server for Biology|January 13, 2025
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Teresa M Lee, et al.
American Journal of Medical Genetics. Part A|April 9, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature reviewAmanda Thomas-Wilson, John P Schacht, David Chitayat, et al.
American Journal of Human Genetics|January 22, 2019
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderMythily Ganapathi, Leah R Padgett, Kentaro Yamada, et al.
Nature Cardiovascular Research|January 6, 2026
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathyMichael R Murphy, Mythily Ganapathi, Esther R Rotlevi, et al.
Human Genetics|June 10, 2020
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesisMythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
American Journal of Medical Genetics. Part A|December 18, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative ReviewElizabeth A VanSickle, Sara M Sarasua, Tracy Lowe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, et al.
Pageof 5