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Items: 2

1.

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH.

Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54.

2.

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I.

J Hum Genet. 2012 Oct;57(10):621-32. doi: 10.1038/jhg.2012.91. Epub 2012 Jul 26. Review.

PMID:
22832387

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