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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 164 篇作者统计合作学者相似作者
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Genetics in medicine : official journal of the American College of Medical Geneticsno. 5 (2024): 101075-101075
European Journal of Human Geneticspp.1-7, (2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 516-516
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 467-467
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Sara Cuvertino, Evgenii Martirosian,Terence Garner,Ian Donaldson,Adam Stevens,Andrew Sharrocks,Susan Kimber,Siddharth Banka
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 721-722
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Evgenii Martirosian,Sara Cuvertino,Terence Garner, Bridgious Walusimbi,Susan Kimber,Siddharth Banka,Adam Stevens
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 723-724
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 483-483
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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,Renee Carroll,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 188-188
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George J. Burghel,Jamie M. Ellingford,Ronnie Wright,Lauren Bradford, Jake Miller,Christopher Watt,Jonathan Edgerley, Farah Naeem,Siddharth Banka
JOURNAL OF MEDICAL GENETICSno. 7 (2024): jmg-2023
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作者统计
#Papers: 163
#Citation: 4284
H-Index: 36
G-Index: 63
Sociability: 8
Diversity: 3
Activity: 85
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