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Michael A Gargano

Showing results (1-10 of 15) with videos related to

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Bioinformatics (Oxford, England)|August 10, 2016
shinyGEO: a web-based application for analyzing gene expression omnibus datasetsJasmine Dumas, Michael A Gargano, Garrett M Dancik
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
American Journal of Human Genetics|November 5, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
American Journal of Medical Genetics. Part A|September 19, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral PalsyThania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare DiseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.
American Journal of Human Genetics|August 7, 2020
Interpretable Clinical Genomics with a Likelihood Ratio ParadigmPeter N Robinson, Vida Ravanmehr, Julius O B Jacobsen, et al.
Bioinformatics Advances|July 7, 2025
Leveraging generative AI to assist biocuration of medical actions for rare diseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2026
Data-driven prioritization of mouse strains for improved preclinical modeling of rare and common diseaseRobyn L Ball, Alyssa Klein, Matthew W Gerring, et al.
European Journal of Human Genetics : EJHG|February 24, 2026
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support toolsJustin T Reese, Leonardo Chimirri, Yasemin Bridges, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Bioinformatics (Oxford, England)|August 10, 2016
shinyGEO: a web-based application for analyzing gene expression omnibus datasetsJasmine Dumas, Michael A Gargano, Garrett M Dancik
American Journal of Human Genetics|July 21, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
American Journal of Human Genetics|November 5, 2021
Interpretable prioritization of splice variants in diagnostic next-generation sequencingDaniel Danis, Julius O B Jacobsen, Leigh C Carmody, et al.
Cold Spring Harbor Molecular Case Studies|September 8, 2023
De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsyJagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, et al.
American Journal of Medical Genetics. Part A|September 19, 2025
An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral PalsyThania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare DiseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.
American Journal of Human Genetics|August 7, 2020
Interpretable Clinical Genomics with a Likelihood Ratio ParadigmPeter N Robinson, Vida Ravanmehr, Julius O B Jacobsen, et al.
Bioinformatics Advances|July 7, 2025
Leveraging generative AI to assist biocuration of medical actions for rare diseaseEnock Niyonkuru, J Harry Caufield, Leigh C Carmody, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2026
Data-driven prioritization of mouse strains for improved preclinical modeling of rare and common diseaseRobyn L Ball, Alyssa Klein, Matthew W Gerring, et al.
European Journal of Human Genetics : EJHG|February 24, 2026
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support toolsJustin T Reese, Leonardo Chimirri, Yasemin Bridges, et al.
Pageof 2