Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

Slavotinek, A., Rego, S., Sahin-Hodoglugil, N., Kvale, M., Lianoglou, B., Yip, T., Hoban, H., Outram, S., Anguiano, B., Chen, F., Michelson, J., Cilio, R. M., Curry, C., Gallagher, R. C., Gardner, M., Kuperman, R., Mendelsohn, B., Sherr, E., Shieh, J., … Norton, M. E. (2023). Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. Npj Genomic Medicine, 8(1). https://doi.org/10.1038/s41525-023-00353-0
Authors:
Anne Slavotinek
Shannon Rego
Nuriye Sahin-Hodoglugil
Mark Kvale
Billie Lianoglou
Tiffany Yip
Hannah Hoban
Simon Outram
Beatrice Anguiano
Flavia Chen
Jeremy Michelson
Roberta M. Cilio
Cynthia Curry
Renata C. Gallagher
Marisa Gardner
Rachel Kuperman
Bryce Mendelsohn
Elliott Sherr
Joseph Shieh
Jonathan Strober
Allison Tam
Jessica Tenney
William Weiss
Amy Whittle
Garrett Chin
Amanda Faubel
Hannah Prasad
Yusuph Mavura
Jessica Van Ziffle
W. Patrick Devine
Ugur Hodoglugil
Pierre-Marie Martin
Teresa N. Sparks
Barbara Koenig
Sara Ackerman
Neil Risch
Pui-Yan Kwok
Mary E. Norton
Affiliated Authors:
Jeremy Michelson
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Prenatal Aneuploidy Diagnosis and Screening Techniques (OpenAlex Topic)
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Publication Type:
Article
Unique ID:
10.1038/s41525-023-00353-0
DOI:
10.1038/s41525-023-00353-0
Journal:
npj Genomic Medicine
Publication Date:
Data Source:
Scopus
Source Link:
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View OpenAlex Record
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