Ben Distel

ORCID

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 5

Top Venues

Molecular genetics & genomic medicine

Scientific reports

Human mutation

Human molecular genetics

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

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)
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L Erwin, Karen W Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthur Sorlin, Ange-Line Bruel, David A Koolen, Melissa K Gabriel, Mari Rossi, David R Fitzpatrick, Andrew O M Wilkie, Eduardo Calpena, David Johnson, Alice Brooks, Marjon van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G Langley, Aida Telegrafi, Amy Blevins, Jessica Hoffman, Maria J Guillen Sacoto, Jane Juusola, Kristin G Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Human mutation 42 (4) (2021)
Rossella Avagliano Trezza, A Mattijs Punt, Edwin Mientjes, Marlene van den Berg, F Isabella Zampeta, Ilona J de Graaf, Yana van der Weegen, Jeroen A A Demmers, Ype Elgersma, Ben Distel
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function. Scientific reports 11 (1) (2021)
Amber Geerts-Haages, Stijn N V Bossuyt, Inge den Besten, Hennie Bruggenwirth, Ineke van der Burgt, Helger G Yntema, A Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Molecular genetics & genomic medicine 8 (11) (2020)
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)

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Publication Activity (10 Years)

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Ben Distel