Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

IF 6.9 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genes & Diseases Pub Date : 2024-03-28 DOI:10.1016/j.gendis.2024.101280

Ronen Schneider , Shirlee Shril , Florian Buerger , Konstantin Deutsch , Kirollos Yousef , Camille N. Frank , Ana C. Onuchic-Whitford , Thomas M. Kitzler , Youying Mao , Verena Klämbt , Muhammad Y. Zahoor , Katharina Lemberg , Amar J. Majmundar , Bshara Mansour , Ken Saida , Steve Seltzsam , Caroline M. Kolvenbach , Lea Maria Merz , Nils D. Mertens , Tobias Hermle , Friedhelm Hildebrandt

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利用三组外显子测序扩展新型候选基因谱，在 320 个类固醇耐受性肾病综合征家族中确定 27.5% 的单基因病因

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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.