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Updated: Jul 4, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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瑞典队列的整体外体序列测序和多基因评估,该队列患有严重的发育语言障碍

Ashraf Yahia1,2, Danyang Li1,2,3, Sanna Lejerkrans1,2

  • 1Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet, Region Stockholm, Stockholm, Sweden.

Human genetics
|February 1, 2024
PubMed
概括

整体外基因组测序 (WES) 在7.5%的严重发育性语言障碍 (DLD) 个体中发现了显著的遗传变异. 这支持WES作为用于识别单一性DLD形式的首要遗传测试.

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