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个人简介
He is a physician-scientist who studies the nature and causes of developmental brain disorders, and is a leading authority on the causes of human brain malformations. While best known for his work on lissencephaly (smooth brain) and megalencephaly (enlarged brain), he provided the original descriptions for more than 10 clinically recognizable and now well-known syndromes including Smith-Magenis syndrome, rapid-onset dystonia-parkinsonism, coloboma-renal syndrome, bilateral frontoparietal cobblestone malformation, megalencephaly-capillary malformation syndrome (MCAP), megalencephaly-polymicrogyria-polydactly-hydrocephalus syndrome (MPPH) and X-linked lissencephaly with abnormal genitalia (XLAG), all of these now linked to the underlying gene or genes. He co-discovered at least 14 pathogenic copy number variants including the well-known deletion 17p13.3 (Miller-Dieker syndrome), deletion 17p11.2 (Smith-Magenis syndrome) and deletion 16p11.2 (autism and intellectual disability), and co-discovered almost 70 human disease genes.
研究兴趣
论文共 661 篇作者统计合作学者相似作者
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Denise Metry, Hillary L. Copp,Kristy L. Rialon,Ionela Iacobas,Eulalia Baselga,William B. Dobyns,Beth Drolet,Ilona J. Frieden,Maria Garzon,Anita Haggstrom, Darrell Hanson, Laura Hollenbach,
The Journal of Pediatrics (2024): 114101-114101
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 3 (2024): e63416-e63416
C A P F Alves,J Sidpra, A Manteghinejad,S Sudhakar, F V Massey,K A Aldinger,P Haldipur,L T Lucato,S F Ferraciolli,S R Teixeira,Ö Öztekin,D Bhattacharya,
AJNR. American journal of neuroradiologyno. 10 (2023): 1201-1207
Kari A Mattison,Gilles Tossing,Fred Mulroe, Callum Simmons,Kameryn M Butler, Alison Schreiber,Adnan Alsadah,Derek E Neilson,Karin Naess,Anna Wedell,Anna Wredenberg,Arthur Sorlin,
Journal of cerebrovascular and endovascular neurosurgery (2023)
Genetics in medicine : official journal of the American College of Medical Geneticsno. 8 (2023): 100856-100856
Journal of the International Neuropsychological Societyno. s1 (2023): 850-851
ANNALS OF NEUROLOGY (2023): S206-S207
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