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个人简介
Dr. Vincent’s research is focused on providing a better understanding of the genetics and molecular pathways involved with autism and other developmental and intellectual disability disorders, such as Rett syndrome. His work includes genetic mapping for autism on the X-chromosome, including studies of a type of mutation called copy number variants. This work has identified a number of genes that are associated with autism, including the PTCHD1 gene. In addition, he was involved in the discovery of a new variant of the Rett syndrome gene. This finding sparked the discovery of disease-causing mutations for a number of Rett syndrome patients, for whom no mutation could previously be found. Dr. Vincent’s studies have also recently discovered several new genes involved in intellectual disability. This work was done by mapping regions at risk in affected families from Pakistan, where marriage between cousins is common and multiple family members can be affected. The discoveries include new genes for Joubert syndrome, CC2D2A and TCTN2, and 36 other new genes for intellectual disability, including TRAPPC9, for the majority of which the inheritance pattern is autosomal recessive (meaning two faulty copies of the gene are inherited, one from the mother and one from the father). Dr Vincent’s current work is also using next-generation sequencing to identify genes involved in autism. He is also involved in a study searching for genes related to bipolar affective disorder.
研究兴趣
论文共 204 篇作者统计合作学者相似作者
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Hamid Khan,Ricardo Harripaul,Anna Mikhailov, Sumayah Herzi, Sonya Bowers,Muhammad Ayub,Muhammad Imran Shabbir,John B Vincent
BRAINno. 1 (2024): 311-324
Maria Koromina,Ashvin Ravi,Georgia Panagiotaropoulou,Brian M Schilder, Jack Humphrey,Alice Braun, Tim Bidgeli,Chris Chatzinakos,Brandon Coombes,Jaeyoung Kim,Xiaoxi Liu,Chikashi Terao,
medRxiv : the preprint server for health sciences (2024)
Stephen F. Pastore, Connie T.Y. Xie, Tahir Muhammad, Sierra C. El-masri, Paul W. Frankland,Paul A. Hamel,John B. Vincent
biorxiv(2024)
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2024)
Elisa Cali, Gifty Bhat, Sahar Da'as,Yamna Kriouile,Florence Petit, Karine Poirier,Stephanie Efthymiou,Rauan Kaiyrzhanov,Gijs Santen,Hoda Tomoum, Aisha Mohamed Saeed Mohamed Al Shamsi,Huma Cheema,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 60-61
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Taimoor Sheikh,John Vincent
Genetics in Medicine Open (2024): 101565
The Journal of Molecular Diagnosticsno. 3 (2023): 156-167
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