Improvement of variant reclassification in genetic neurodevelopmental conditions

Kowanda, M., Smith, R. S., Lundy, J., Kentros, C., Kleinman, E., Walsh, L. K., Schratt, G., Taylor, C. M., & Chung, W. K. (2024). Improvement of variant reclassification in genetic neurodevelopmental conditions. Genetics in Medicine Open, 2, 101845. https://doi.org/10.1016/j.gimo.2024.101845
Authors:
Michelle Kowanda
Rebecca Sheedy Smith
Jamie Lundy
Catherine Kentros
Elisheva Kleinman
Lauren Kasparson Walsh
Gerhard Schratt
Cora M. Taylor
Wendy K. Chung
Affiliated Authors:
Catherine Kentros
Columbia Affiliation:
Author Keywords:
autism
genetic neurodevelopmental disorders
variant interpretation
variant pathogenicity
variants of uncertain significance
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Publication Type:
Article
Unique ID:
10.1016/j.gimo.2024.101845
DOI:
10.1016/j.gimo.2024.101845
Journal:
Genetics in Medicine Open
Publication Date:
Data Source:
Scopus
Source Link:
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