Clinical genome sequencing: Three years’ experience at a tertiary children’s hospital

Author:

Kumar Runjun D.ORCID,Saba Lisa F.,Streff Haley,Shaw Chad A.,Mizerik Elizabeth,Snyder Matthew T.,Lopez-Terrada Dolores,Scull Jennifer

Funder

Baylor College of Medicine

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference20 articles.

1. Exome and whole genome sequencing in the Neonatal Intensive Care Unit;Muriello;Clin Perinatol,2022

2. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children;French;Intensive Care Med,2019

3. Genome analysis in sick neonates and infants: high-yield phenotypes and contribution of small copy number variations;Suzuki;J Pediatr,2022

4. Genome sequencing as a first-line diagnostic test for hospitalized infants;Bowling;Genet Med,2022

5. A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing;Kumar;Mol Genet Metab Rep,2021

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