Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications-Reference-Cited by-同舟云学术

Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications

Published:2023-09-26 Issue:13 Volume:101 Page:588-592
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Gaillard Jonathan Read¹,Whitt Zachary¹,Selwa Linda M.¹,Harris David¹^ORCID,Lee Kristen N.¹^ORCID

Affiliation:

1. From the Division of Pediatric Neurology (J.R.G.) and Division of Pediatric Genetics, Metabolism, and Genomic Medicine (Z.W., K.N.L.), Department of Pediatrics, Division of Epilepsy (L.M.S., D.H.), Department of Neurology, and Division of Genetic Medicine (K.N.L.), Department of Internal Medicine, University of Michigan, Ann Arbor.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000207552

Reference13 articles.

1. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

2. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria

3. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

4. 2022 Overview of Metabolic Epilepsies

5. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

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