Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study

IF 6.9 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases Pub Date : 2024-08-09 DOI:10.1016/j.gendis.2024.101389

Yimeng Qiao, Nan Lv, Tongchuan Li, Ye Cheng, Yunqian Li, Jiqiang Dong, Meimei Han, Yang Gu, Qing Shang, Qinghe Xing

引用次数: 0

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在患有全球发育迟缓/智力障碍的中国儿童中检测到的临床相关变异：全外显子组测序研究

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来源期刊

Genes & Diseases Multiple-

CiteScore

7.30

自引率

0.00%

发文量

347

审稿时长

49 days

期刊介绍： Genes & Diseases is an international journal for molecular and translational medicine. The journal primarily focuses on publishing investigations on the molecular bases and experimental therapeutics of human diseases. Publication formats include full length research article, review article, short communication, correspondence, perspectives, commentary, views on news, and research watch. Aims and Scopes Genes & Diseases publishes rigorously peer-reviewed and high quality original articles and authoritative reviews that focus on the molecular bases of human diseases. Emphasis will be placed on hypothesis-driven, mechanistic studies relevant to pathogenesis and/or experimental therapeutics of human diseases. The journal has worldwide authorship, and a broad scope in basic and translational biomedical research of molecular biology, molecular genetics, and cell biology, including but not limited to cell proliferation and apoptosis, signal transduction, stem cell biology, developmental biology, gene regulation and epigenetics, cancer biology, immunity and infection, neuroscience, disease-specific animal models, gene and cell-based therapies, and regenerative medicine.