Publication: Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
Date
Date
Date
Citations
Boonsawat, P., Horn, A. H. C., Steindl, K., Baumer Wolz, A., Joset, P., Kraemer, D., Bahr, A., Ivanovski, I., Cabello Ferrete, E., Papik, M., Zweier, M., Oneda, B., Sirleto, P., Burkhardt, T., Sticht, H., & Rauch, A. (2022). Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders. N p j Genomic Medicine, 7(1), 45. https://doi.org/10.1038/s41525-022-00316-x
Abstract
Abstract
Abstract
The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern of parents-to-be, we addressed the question of residual risk by assessing the risk-reduction potential for NDDs in a retrospective study investigating ECS with different criteria for gene selection and definition of pathogenicity. We used exome sequencing data from 700 parents of children with ND
Metrics
Downloads
Views
Additional indexing
Volume
Volume
Volume
Number
Number
Number
Page Range
Page Range
Page Range
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
Additional Information
Additional Information
Additional Information
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Funder name
Funder name
Funder name
University of Zurich
SNSF
Grant ID
Grant ID
Grant ID
Project Website
Project Website
Project Website
Project Title
Project Title
Project Title
CRPP Praeclare
Genetic causes and molecular mechanisms in severe intellectual disability
Metrics
Downloads
Views
Citations
Boonsawat, P., Horn, A. H. C., Steindl, K., Baumer Wolz, A., Joset, P., Kraemer, D., Bahr, A., Ivanovski, I., Cabello Ferrete, E., Papik, M., Zweier, M., Oneda, B., Sirleto, P., Burkhardt, T., Sticht, H., & Rauch, A. (2022). Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders. N p j Genomic Medicine, 7(1), 45. https://doi.org/10.1038/s41525-022-00316-x
