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浏览量:224
职业迁徙
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 601 篇作者统计合作学者相似作者
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The journal of pediatrics/The Journal of pediatricspp.114101-114101, (2024)
Elizabeth I. Pierpont, Rene Labounek,Ashish Gupta,Troy Lund, Paul J. Orchard,William B. Dobyns, Monica Bondy,Amy Paulson, Andrew Metz,Ryan Shanley, Jeffrey R. Wozniak,Bryon A. Mueller,Daniel Loes,David Nascene,Igor Nestrasil
NEUROLOGYno. 5 (2024)
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 3 (2024)
AJNR. American journal of neuroradiologyno. 10 (2023): 1201-1207
Journal of cerebrovascular and endovascular neurosurgery (2023)
Veronique Caron,Nicolas Chassaing,Nicola Ragge,Felix Boschann,Angelina My-Hoa Ngu, Elisabeth Meloche,Sarah Chor,Saquib A. Lakhani,Weizhen Ji,Laurie Steiner,Julien Marcadier,Philip R. Jansen,Laura A. van de Pol,Johanna M. van Hagen,Alvaro Serrano Russi,Gwenael Le Guyader,Magnus Nordenskjold,Ann Nordgren,Britt-Marie Anderlid,Julie Plaisancie,Corinna Stoltenburg,Denise Horn,Anne Drenckhahn,Fadi F. Hamdan,Mathilde Lefebvre,Tania Attie-Bitach,Peggy Forey,Vasily Smirnov, Francoise Ernould,Marie-Line Jacquemont,Sarah Grotto, Alberto Alcantud,Alicia Coret,Rosario Ferrer-Avargues,Siddharth Srivastava,Catherine Vincent-Delorme,Shelby Romoser,Nicole Safina,Dimah Saade,James R. Lupski,Daniel G. Calame,David Genevieve,Nicolas Chatron,Caroline Schluth-Bolard,Kenneth A. Myers,William B. Dobyns,Patrick Calvas,Caroline Salmon,Richard Holt,Frances Elmslie,Marc Allaire,Daniil M. Prigozhin,Andre Tremblay,Jacques L. Michaud
Genetics in medicineno. 8 (2023): 100856-100856
Lu Wang,Caleb Heffner, Keng Loi Vong,Chelsea Barrows,Yoo-Jin Ha,Sangmoon Lee,Pablo Lara-Gonzaleze,Ishani Jhamb,Dennis Van der Meer,Robert Loughnan,Nadine Parker,David Sievert, Swapnil Mittal,Mahmoud Y. Issa,Ole A. Andreassen,Anders Dale,William B. Dobyns,Maha S. Zaki,Stephen A. Murray,Joseph G. Gleeson
Journal of the International Neuropsychological Societyno. s1 (2023): 850-851
ANNALS OF NEUROLOGY (2023): S206-S207
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David Picketts,Ghayda Mirzaa,Keqin Yan,Raissa Relator,Sara Timpano,Binnaz Yalcin,Stephan Collins,Alban Ziegler,Emily Pao,Nora Oyama,Elise Brischoux-Boucher,Juliette Piard,Kristin Monaghan,Maria Guillen Sacoto,William Dobyns,Kristen Park, Daniel Fernández-Mayoralas,Alberto Fernández-Jaén,Parul Jayakar,Alfredo Brusco,Vincenzo Antona,Elisa Giorgio,Malin Kvarnung,Bertrand Isidor,Solène Conrad,Benjamin Cogné,Wallid Deb, K E Stuurman,Katalin Sterbova,Noor Smal,Sarah Weckhuysen,Renske Oegema,Micheil Innes, Maeson Latsko,Tawfeg Ben-Omran,Rebecca Yeh,Michael Kruer,Somayeh Bakhtiari,Antigone Papavasiliou,Sébastien Moutton,Sophie Nambot,Sirisak Chanprasert,Sarah Paolucci, Kait Miller,Barbara Burton,Katherine Kim,Emily O'Heir,Zandre Bruwer,Kirsten Donald,Tjitske Kleefstra,Amy Goldstein,Brad Angle,Kelly Bontempo,Peter Miny,Pascal Joset,Florence Demurger,Emma Hobson,Lewis Pang,Lori Carpenter, Dong Li,Dominique Bonneau,Bekim Sadikovic
Research square (2023)
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作者统计
#Papers: 600
#Citation: 44076
H-Index: 108
G-Index: 195
Sociability: 9
Diversity: 0
Activity: 3
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