Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Author:

Soden Sarah E.123,Saunders Carol J.1234,Willig Laurel K.123,Farrow Emily G.1234,Smith Laurie D.123,Petrikin Josh E.123,LePichon Jean-Baptiste123,Miller Neil A.12,Thiffault Isabelle134,Dinwiddie Darrell L.56,Twist Greyson1,Noll Aaron1,Heese Bryce A.23,Zellmer Lee14,Atherton Andrea M.123,Abdelmoity Ahmed T.23,Safina Nicole23,Nyp Sarah S.2,Zuccarelli Britton2,Larson Ingrid A.12,Modrcin Ann23,Herd Suzanne12,Creed Mitchell1,Ye Zhaohui7,Yuan Xuan7,Brodsky Robert A.7,Kingsmore Stephen F.1234

Affiliation:

1. Center for Pediatric Genomic Medicine, Children’s Mercy–Kansas City, Kansas City, MO 64108, USA.

2. Department of Pediatrics, Children’s Mercy–Kansas City, Kansas City, MO 64108, USA.

3. School of Medicine, University of Missouri–Kansas City, Kansas City, MO 64108, USA.

4. Department of Pathology, Children’s Mercy–Kansas City, Kansas City, MO 64108, USA.

5. Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA.

6. Clinical and Translational Science Center, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA.

7. Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

Abstract

Molecular diagnosis of pediatric neurodevelopmental disorders by genomic sequencing is frequently informative and cost-effective and can affect clinical care.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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