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Stijn N V Bossuyt

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 2

Top Topics

High Throughput

Pseudomonas Aeruginosa

Intellectual Disability

Crystal Structure

Top Venues

Human molecular genetics

Nature neuroscience

Amsterdam UMC

University of Amsterdam (MSC)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Amsterdam UMC Sep 13o 2015 - Mar 31o 2020

Netherlands

PhD :: Medical Biochemistry

Education History

University of Amsterdam

Netherlands

MSC

Publications

Stijn N V Bossuyt, A Mattijs Punt, Ilona J de Graaf, Janny van den Burg, Mark G Williams, Helen Heussler, Ype Elgersma, Ben Distel
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Human molecular genetics 30 (6) (2022)
Rossella Avagliano Trezza, Monica Sonzogni, Stijn N V Bossuyt, F Isabella Zampeta, A Mattijs Punt, Marlene van den Berg, Diana C Rotaru, Linda M C Koene, Shashini T Munshi, Jeffrey Stedehouder, Johan M Kros, Mark G Williams, Helen Heussler, Femke M S de Vrij, Edwin J Mientjes, Geeske M van Woerden, Steven A Kushner, Ben Distel, Ype Elgersma
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome. Nature neuroscience 22 (8) (2019)