Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

Purpose: Exome sequencing (ES) is a powerful tool that facilitates the diagnosis of patients with rare Mendelian syndromes. In 2018 the Israeli Ministry of Health initiated a national pilot program that funds ES for outpatients with global developmental delay (GDD). Here, we describe the 3-year impa...

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Bibliographic Details
Main Authors: Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
Autism
Clinical management
Consanguinity
Exome sequencing
Global developmental delay
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008373

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http://www.sciencedirect.com/science/article/pii/S2949774423008373

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