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Article

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

JAMA network open - 2 Oct 2019

McCreary Dara, Omoyinmi Ebun, Hong Ying, Mulhern Ciara, Papadopoulou Charalampia, Casimir Marina, Hacohen Yael, Nyanhete Rodney, Ahlfors Helena, Cullup Thomas, Lim Ming, Gilmour Kimberly, Mankad Kshitij, Wassmer Evangeline, Berg Stefan, Hemingway Cheryl, Brogan Paul, Eleftheriou Despina

Abstract excerpt

Importance: Neuroinflammatory disorders are a range of severe neurological disorders causing brain and spinal inflammation and are now increasingly recognized in the pediatric population. They are often characterized by marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis. Objective: To develop and evaluate a next-generation sequencing panel...

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Identifiers

PMID: 31664448
DOI: 10.1001/jamanetworkopen.2019.14274
PMCID: PMC6824223

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Source receipt: pubmed, retrieved 7 Sept 2026.

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