. Author manuscript; available in PMC: 2019 May 29.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432–439. doi: 10.1002/ajmg.c.31666

Table III.

Summary of genomic investigations

Method	Study Design	DNA Source	N
Chromosome array	Proband	Blood	41
Exome	Proband	Blood or Saliva	28
Exome	Trio	Blood or Saliva	29
Exome and Genome	Trio	Cerebellum	1
Exome and Genome	Discordant MZ Twin Pair and parents	Blood	1

N, number of families/probands/affected individuals; MZ, monozygotic