Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper.

IF 3.5 2区医学 Q2 GENETICS & HEREDITY Journal of Medical Genetics Pub Date : 2024-11-04 DOI:10.1136/jmg-2024-110396

D Gareth Evans, Emma Burkitt-Wright, John Ealing, Grace Vassello, Judith Eelloo, Alexander Lee

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六十岁的六人。NF1恶性周围神经鞘瘤：一篇高被引论文的20年回顾。

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来源期刊

Journal of Medical Genetics 医学-遗传学

CiteScore

7.60

自引率

2.50%

发文量

审稿时长

4-8 weeks

期刊介绍： Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.

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Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation. Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study. Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper. WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females. Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing.