Daphne J Smits

ORCID

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 9

Top Venues

Human genetics

Brain : a journal of neurology

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

Publications

Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Monique T Mulder, Sandra den Hoedt, Grace Yoon, Ashish R Deshwar, Christina Kresge, Beth Pletcher, Maura van Mook, Marta Serio Ferreira, Raymond A Poot, Johan A Slotman, Gert-Jan Kremers, Abeer Ahmad, Buthaina Albash, Laila Bastaki, Dana Marafi, Jordy Dekker, Tjakko J van Ham, Laurent Nguyen, Grazia Maria Simonetta Mancini
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes. Brain : a journal of neurology (2023)
Daphne J Smits, Rachel Schot, Cristiana A Popescu, Kerith-Rae Dias, Lesley Ades, Lauren C Briere, David A Sweetser, Itaru Kushima, Branko Aleksic, Suliman Khan, Vasiliki Karageorgou, Natalia Ordonez, Frank J G T Sleutels, Daniëlle C M van der Kaay, Christine Van Mol, Hilde Van Esch, Aida M Bertoli-Avella, Tony Roscioli, Grazia M S Mancini
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues. Human genetics (2023)
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Human genetics 142 (3) (2022)
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Human genetics 142 (3) (2022)
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Human genetics (2022)
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Human genetics 142 (3) (2022)
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Human genetics 142 (3) (2022)
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Human genetics 142 (3) (2022)
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A A Demmers, Dick H W Dekkers, Antonio Romito, Peter J van der Spek, Tjakko J van Ham, Aida M Bertoli-Avella, Grazia M S Mancini
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment. Human genetics 142 (3) (2022)

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Publication Activity (10 Years)

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Daphne J Smits