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Amanda Lindy

Showing results (1-10 of 8) with videos related to

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Genome Research|June 26, 2019
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data setsPerry Evans, Chao Wu, Amanda Lindy, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUPLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
American Journal of Human Genetics|June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing SubgroupLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Plos Genetics|May 16, 2015
Promotion of bone morphogenetic protein signaling by tetraspanins and glycosphingolipidsZhiyu Liu, Herong Shi, Lindsey C Szymczak, et al.
Journal of Neuromuscular Diseases|June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert PanelJustyne E Ross, May Flowers, Shannon McNulty, et al.
Annals of Clinical and Translational Neurology|October 18, 2022
Phenotypic continuum of NFU1-related disordersRauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, et al.
Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Genome Research|June 26, 2019
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data setsPerry Evans, Chao Wu, Amanda Lindy, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUPLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.
American Journal of Human Genetics|June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing SubgroupLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Plos Genetics|May 16, 2015
Promotion of bone morphogenetic protein signaling by tetraspanins and glycosphingolipidsZhiyu Liu, Herong Shi, Lindsey C Szymczak, et al.
Journal of Neuromuscular Diseases|June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert PanelJustyne E Ross, May Flowers, Shannon McNulty, et al.
Annals of Clinical and Translational Neurology|October 18, 2022
Phenotypic continuum of NFU1-related disordersRauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, et al.
Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
Pageof 1