基本信息
浏览量:1
职业迁徙
个人简介
I am a Clinician Scientist who combines genomics with functional and clinical studies in rare human genetic disorders. I hold a joint position at the Manchester Centre for Genomic Medicine (Manchester University NHS Trust) as a Consultant Clinical Geneticist. My current research programs have following themes - (1) performing systematic analysis of whole genome data to discover novel diseases; (2) understanding the mechanisms of paediatric disorders of chromatin remodelling and inborn errors of metabolism to develop new treatments; (3) understanding the contribution of copy number and non-coding variants in Mendelian disorders; and (4) establishing cohorts of paitents with rare disorders for natural history studies and clinical trials.
研究兴趣
论文共 176 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
AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 200-210
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don,George McGillivray,Tae-Ik Choi, Carolyn A Allan,David J Amor,Siddharth Banka,Donald G Basel, Laura D Buch, Deanna Alexis Carere,Renée Carroll,
Molly Godfrey,Michael Levy,Emanuela Leonardi,Christopher Campbell,Leigh Demain, Sarah Jenkinson,Sarah Hilton, Berta Almoguera Castillo,Meena Balasubramanian,Emilia K. Bijlsma,Emma Burkitt-Wright,Gerarda Cappuccio,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 721-721
引用0浏览0引用
0
0
George J Burghel,Jamie M Ellingford,Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt,Jonathan Edgerley, Farah Naeem,Siddharth Banka
Journal of medical geneticspp.jmg-2023, (2024)
Lauren Jeffries,Emily K. Mis,Kirsty McWalter,Sandra Donkervoort,Nina N. Brodsky,Jean-Marie Carpier,Weizhen Ji, Cristian Ionita, Bhaskar Roy,Jon S. Morrow,Armine Darbinyan, Krishna Iyer,
GENETICS IN MEDICINEno. 2 (2024): 101023-101023
Sara Cuvertino,Terence Garner, Evgenii Martirosian, Bridgious Walusimbi,Susan J Kimber,Siddharth Banka,Adam Stevens
crossref(2024)
Jing Yu,Alistair Pagnamenta,Susan Walker,Benito Banos-Pinero, Mark Rogers,Jackie Cook,Mohamed Wafik, Ellie Hay,Detlef Bockenhauer,Adam Jackson,Emma Clement,Louise Wilson,
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 56-57
引用0浏览0引用
0
0
Eva Niggl,Arjan Bouman,Lauren C Briere, Remco M Hoogenboezem,Ilse Wallaard,Joohyun Park,Jakob Admard,Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma,Jennifer Bain,Meena Balasubramanian,
American journal of human geneticsno. 8 (2023): 1414-1435
The American Journal of Human Geneticsno. 6 (2023): 963-978
引用0浏览0WOS引用
0
0
German Demidov, Steven Laurie,Annalaura Torella,Giulio Piluso,Marcello Scala,Manuela Morleo,Vincenzo Nigro,Holm Graessner,Siddharth Banka, Solve-RD consortium,Katja Lohmann,Stephan Ossowski
medrxiv(2023)
引用0浏览0引用
0
0
加载更多
作者统计
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