Whole-exome sequencing in neurologic practice

Author:

Johnson Nicholas E.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Reference11 articles.

1. Clinical and imaging findings in Parkinson disease associated with the A53ESNCAmutation

2. RecessiveREEP1mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

3. Mutation in the sixth immunoglobulin domain ofL1CAMis associated with migrational brain anomalies

4. LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

5. American College of Medical Genetics and Genomics (ACMG). Policy Statement: Points to Consider in the Clinical Application of Genomic Sequencing. Available at: http://www.acmg.net/StaticContent/PPG/Clinical_Application_of_Genomic_Sequencing.pdf. Accessed October 26, 2015.

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