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Mark G Williams (Mark Williams)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

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

Top Topics

High Throughput

Intellectual Disability

Crystal Structure

Traumatic Brain Injury

Top Venues

Human molecular genetics

Nature neuroscience

Genomic Diagnostics

Univesity of Queensland (PHD)

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

Affiliation History

Genomic Diagnostics

Australia

Chief Scientist

Education History

Univesity of Queensland

Australia

PHD :: Faculty of Medicine

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)