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. 2023 Jul 24;80(9):980–988. doi: 10.1001/jamaneurol.2023.2363

Figure 1. Workflow and Diagnostic Yield.

Figure 1.

We performed panel sequencing, exome sequencing, or both on 275 families. After analysis for known genes associated with polymicrogyria (PMG), we also examined exomes for novel associations and used Matchmaker Exchange to build evidence for these associations. Our overall genetic explanation rate was 32.7% (90 of 275). tNGS indicates targeted next-generation sequencing.