基本信息
浏览量:98
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
个人简介
I've been employed as an Honorary Consultant in Clinical Genetics in Oxford since 1993, and my work has always been driven by the desire to give patients and families better answers to the questions they ask me in clinic. Working with plastic surgeons, my primary interest is in craniofacial malformations in children especially craniosynostosis, the premature fusion of the cranial sutures of the skull. By identifying the molecular genetic basis of these conditions, not only can we give families the answers they seek, we also gain fundamental knowledge about the details by which a human skull is built. A key early discovery (1995) was that Apert syndrome, in which the craniosynostosis occurs together with fusions of the fingers and toes, is caused by highly localised, recurrent mutations in the fibroblast growth factor receptor type 2 (FGFR2) gene. From this, two major research themes developed discovering other genetic causes of craniosynostosis, and finding out why certain genetic misprints such as the Apert FGFR2 mutations occur up to a thousand times more frequently than they should. The work on craniosynostosis has led to many important disease gene discoveries, for which genetic testing has been translated into the NHS. Work on the origins of the mutations led to the recognition of a novel process occurring in the testes, which we termed 'selfish spermatogonial selection', that provides a link between the origins of germline and somatic mutation. Current efforts focus on harnessing the technological revolution provided by next generation sequencing to identify even more new genetic causes of craniosynostosis. Using this information, we can explore the complex mechanisms by which a population of stem cells is maintained within the sutures to keep the suture open, yet continuously turns over to promote continued growth of the skull.
研究兴趣
论文共 526 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Nature communicationsno. 1 (2024): 924-924
Journal of Thrombosis and Haemostasisno. 7 (2024): 2059-2070
Ilse Luyckx, Isaac Scott Walton,Nele Boeckx,Kristof Van Schil, Chingyiu Pang, Mania De Praeter,Helen Lord,Christopher Mark Watson,David T Bonthron,Lut Van Laer,Andrew O M Wilkie,Bart Loeys
Journal of medical geneticsno. 4 (2024): 363-368
LANCETno. 10426 (2024): 583-586
Kathryn Fleming,Kate Burley,Fernando M. Ponce-Garcia,Parsa Akbari, Claire Naveh, Chris Rice, Przemyslav Zakrzewski, Willem Gibbs,Sarah Groves,Christopher J. Harbort,Andrew Mumford,Borko Amulic
crossref(2024)
Journal of anatomy (2024)
Nature Communicationsno. 1 (2024)
JOURNAL OF CRANIOFACIAL SURGERYno. 3 (2024): 916-922
Nature Communicationsno. 1 (2024): 1-13
Nature Communicationsno. 1 (2024): 1-13
加载更多
作者统计
#Papers: 526
#Citation: 28837
H-Index: 92
G-Index: 160
Sociability: 8
Diversity: 3
Activity: 93
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn