Use of Exome Sequencing for Infants in Intensive Care Units

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Authors

Linyan Meng · Baylor Genetics

Mohan Pammi · Baylor College of Medicine

Anirudh Saronwala · Baylor College of Medicine

Pilar Magoulas · Baylor College of Medicine

Andrew R. Ghazi · Baylor College of Medicine

Francesco Vetrini · Baylor Genetics

Jing Zhang ·

Abstract

Exome sequencing is a powerful tool for the diagnostic evaluation of critically ill infants with suspected monogenic disorders in the neonatal and pediatric intensive care units and its use has a notable effect on clinical decision making.

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Metabolism and Genetic Disorders

Publication Details

Published in: JAMA Pediatrics

Volume 171, Issue 12, pp. e173438-e173438

DOI: 10.1001/jamapediatrics.2017.3438

Field-Weighted Citation Impact: 38.31

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Use of Exome Sequencing for Infants in Intensive Care Units

Authors

Abstract

Topics & Keywords

Publication Details