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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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David Lewis-Smith

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Nature Communications|July 20, 2023

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individualsLudovica Montanucci, David Lewis-Smith, Ryan L Collins, et al.

European Journal of Human Genetics : EJHG|May 25, 2021

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical dataDavid Lewis-Smith, Shiva Ganesan, Peter D Galer, et al.

Neurology. Genetics|April 29, 2016

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J Kamer, Helen Griffin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disordersKatherine Crawford, Julie Xian, Katherine L Helbig, et al.

Biorxiv : the Preprint Server for Biology|March 31, 2025

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.

American Journal of Human Genetics|August 28, 2020

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic EncephalopathiesPeter D Galer, Shiva Ganesan, David Lewis-Smith, et al.

Epilepsy & Behavior : E&B|February 12, 2021

Climate change and epilepsy: Insights from clinical and basic science studiesMedine I Gulcebi, Emanuele Bartolini, Omay Lee, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024

Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.

Med (New York, N.Y.)|November 14, 2023

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human diseaseLeigh C Carmody, Michael A Gargano, Sabrina Toro, et al.

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Search research articles

Showing results (11-20 of 29) with videos related to

Sort By:

Pageof 3

Nature Communications|July 20, 2023

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individualsLudovica Montanucci, David Lewis-Smith, Ryan L Collins, et al.

European Journal of Human Genetics : EJHG|May 25, 2021

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical dataDavid Lewis-Smith, Shiva Ganesan, Peter D Galer, et al.

Neurology. Genetics|April 29, 2016

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J Kamer, Helen Griffin, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disordersKatherine Crawford, Julie Xian, Katherine L Helbig, et al.

Biorxiv : the Preprint Server for Biology|March 31, 2025

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.

American Journal of Human Genetics|August 28, 2020

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic EncephalopathiesPeter D Galer, Shiva Ganesan, David Lewis-Smith, et al.

Epilepsy & Behavior : E&B|February 12, 2021

Climate change and epilepsy: Insights from clinical and basic science studiesMedine I Gulcebi, Emanuele Bartolini, Omay Lee, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024

Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.

Med (New York, N.Y.)|November 14, 2023

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human diseaseLeigh C Carmody, Michael A Gargano, Sabrina Toro, et al.

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