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Updated: Sep 9, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant

Qiaoyu Cao1, Anqi Zhao2, Zhoukai Long3

  • 1Department of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Human Mutation
|September 2, 2025
PubMed

Keywords:
PARN genedyskeratosis congenitaoptical genome mappingretrotransposonsstructural variant

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