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个人简介
Research interests
My research interest focuses on the genetic cause(s) of neurological disorders, in children and adults. In recent years work in my group has identified novel neurogenetic syndromes associated with variants in the SOX4, SOX11, MYT1L and SLC12A2 genes.
In adults, my interest centres on studying the early (prodromal) stages of neurodegenerative disease using carriers of genetic mutations. We have used gait analysis and wearable sensors to identify preclinical motor changes in presymptomatic mutation carriers (22q11 deletion, genetic ataxias).
I am happy to consider applications from self funded students interested in PhD projects in this field.
研究兴趣
论文共 135 篇作者统计合作学者相似作者
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European Journal of Human Geneticsno. 5 (2024): 469-470
European Journal of Human Geneticsno. 1 (2024): 1-2
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JOURNAL OF MEDICAL GENETICSpp.jmg-2023, (2024)
European Journal of Human Geneticsno. 2 (2024): 138-138
EUROPEAN JOURNAL OF HUMAN GENETICSno. 3 (2024): 249-250
Andre Mégarbané,Cybel Mehawej,Daniel Mahfoud,Eliane Chouery,Koenraad Devriendt, Mariam Hijazi, Seung W. Ryu, JiHye Kim,Alisdair McNeill
CUREUS JOURNAL OF MEDICAL SCIENCEno. 1 (2024): e51811-e51811
JOURNAL OF INTELLECTUAL DISABILITY RESEARCHno. 3 (2024): 285-292
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