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个人简介
He has a long-standing research interest in elucidating molecular genetic mechanisms in mitochondrial diseases and muscle/neurological channelopathies and also in the development of improved genetic diagnostics. He leads the UK national diagnostic reference laboratory and advisory service for channelopathies and co-leads a similar service for mitochondrial diseases.He has published over170 peer reviewed original research papers including New England Journal of Medicine, American Journal of Human Genetics, Lancet Neurology and Lancet, and has held the position of deputy Editor of the Journal of Neurology, Neurosurgery and Psychiatry since 2003.
研究兴趣
论文共 376 篇作者统计合作学者相似作者
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European Journal of Human Geneticsno. 2 (2024): 200-208
Venugopalan Y. Vishnu,Richard J. L. F. Lemmers,Alisha Reyaz,Rinkle Mishra, Tanveer Ahmad,Patrick J. van der Vliet, Marcelina M. Kretkiewicz,William L. Macken,Stephanie Efthymiou,Natalia Dominik,Jasper M. Morrow,Rohit Bhatia,
Journal of neurology, neurosurgery, and psychiatry (2024)
EUROPEAN JOURNAL OF HUMAN GENETICSno. 11 (2024): 279-279
medRxiv : the preprint server for health sciences (2024)
Natalia Dominik,Stephanie Efthymiou,Christopher J. Record, Xinyu Miao, Renee Lin, Jevin Parmar,Annarita Scardamaglia,Reza Maroofian,Gabriel Aughey, Abigail Wilson,Simon Lowe,Riccardo Curro,
crossref(2024)
Clinical and experimental rheumatologyno. 2 (2024): 425-435
Helen Devine, Matthew Solomons,Luca Zampedri,Michael G Hanna,Carlo Rinaldi,Pietro Fratta,Dipa Jayaseelan
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作者统计
#Papers: 380
#Citation: 10370
H-Index: 58
G-Index: 87
Sociability: 8
Diversity: 3
Activity: 110
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