Sarah Weckhuysen associate professor - fund. clinical researcher

Publications Sarah Weckhuysen

Early mortality in STXBP1-related disorders

Source
Neurological sciences - ISSN 1590-1874-46:3 (2025) p. 1339-1347
Author(s)
    Francesca Furia, Charlene Son Rigby, Ingrid E. Scheffer, Nicholas Allen, Kate Baker, Christian Hengsbach, Josua Kegele, James Goss, Kathleen Gorman, Misra-Isrie Mala, Francesco Nicita, Talia Allan, Alberto Spalice, Yvonne Weber, Ganna Balagura, Bruria Benzeev, Hilgo Bruining, Alejandra Darling, Francesca Furia, Ángeles García Cazorla, Misra-Isrie Mala, Mathieu Milh, Rikke Steensbjerre Møller, Hannah Stamberger, Pasquale Striano, Steffen Syrbe, Kim Marie Thalwitzer, Matthijs Verhage, Sarah Weckhuysen, Guido Rubboli, Rikke S. Møller, Elena Gardella

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome

Source
JCI Insight - ISSN 2379-3708- (2025) p. 1-38
Author(s)

An interconnected data infrastructure to support large-scale rare disease research

Source
GigaScience - ISSN 2047-217X-13 (2024) p. 1-14
Author(s)
    Lennart F. Johansson, Steve Laurie, Dylan Spalding, Spencer Gibson, David Ruvolo, Coline Thomas, Davide Piscia, Fernanda de Andrade, Gerieke Been, Marieke Bijlsma, Han Brunner, Sandi Cimerman, Farid Yavari Dizjikan, Kornelia Ellwanger, Marcos Fernandez, Mallory Freeberg, Gert-Jan van de Geijn, Roan Kanninga, Vatsalya Maddi, Mehdi Mehtarizadeh, Pieter Neerincx, Stephan Ossowski, Ana Rath, Dieuwke Roelofs-Prins, Marloes Stok-Benjamins, K. Joeri van der Velde, Colin Veal, Gerben van der Vries, Marc Wadsley, Gregory Warren, Birte Zurek, Thomas Keane, Holm Graessner, Sergi Beltran, Morris A. Swertz, Anthony J. Brookes, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Jonathan De Winter, Danique Beijer, Peter De Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Patrick May

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Source
Nature neuroscience - ISSN 1097-6256-27:10 (2024) p. 1864-1879
Author(s)
    Siwei Chen, Bassel W. Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Alison Anderson, Joe Anderson, Danielle M. Andrade, Grazia Annesi, Mutluay Arslan, Pauls Auce, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Eric Banks, Carmen Barba, Karen Barboza, Fabrice Bartolomei, Nick Bass, Larry W. Baum, Tobias H. Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Claudia Bianchini, Francesca Bisulli, Douglas Blackwood, Ilan Blatt, Ingo Borggräfe, Christian Bosselmann, Vera Braatz, Harrison Brand, Knut Brockmann, Russell J. Buono, Robyn M. Busch, S. Hande Caglayan, Laura Canafoglia, Christina Canavati, Barbara Castellotti, Gianpiero L. Cavalleri, Felecia Cerrato, Francine Chassoux, Christina Cherian, Stacey S. Cherny, Hannah Stamberger, Sarah Weckhuysen, Samuel F. Berkovic