Sarah Weckhuysen hoofddocent - fundamenteel klinisch navorser

Publicaties Sarah Weckhuysen

Heterozygous missense variants in the ATPase phospholipid transporting 9A gene, ATP9A, alter dendritic spine maturation and cause dominantly inherited nonsyndromic intellectual disability

Bron
Human mutation - ISSN 1059-7794-2025:1 (2025) p. 1-15
Auteur(s)
    Amelie Cordovado, Yvan Herenger, Coline Cormier, Estrella Lopez-Martin, Hannah Stamberger, Laurence Faivre, Anne-Sophie Denomme-Pichon, Antonio Vitobello, Hamza Hadj Abdallah, Giulia Barcia, Thomas Courtin, Beatriz Martinez-Delgado, Eva Bermejo-Sanchez, Maria J. Barrero, Brooklynn Gasser, Stephane Bezieau, Sebastien Kury, Sarah Weckhuysen, Frederic Laumonnier, Annick Toutain, Marie-Laure Vuillaume

ATP1A3 variants, variably penetrant short QT intervals, and lethal ventricular arrhythmias

Bron
JAMA pediatrics - ISSN 2168-6203- (2025) p. 1-10
Auteur(s)
    Mary E. Moya-Mendez, Minu-Tshyeto Bidzimou, Padmapriya Muralidharan, Zhushan Zhang, Jordan E. Ezekian, Robin M. Perelli, Lauren E. Parker, Lyndsey Prange, April Boggs, Jeffrey J. Kim, Taylor S. Howard, Tarah A. Word, Xander H. T. Wehrens, Gabriela Reyes Valenzuela, Roberto Caraballo, Giacomo Garone, Federico Vigevano, Sarah Weckhuysen, Charissa Millevert, Monica Troncoso, Mario Matamala, Simona Balestrini, Sanjay M. Sisodiya, Josephine Poole, Claudio Zucca, Eleni Panagiotakaki, Maria T. Papadopoulou, Sébile Tchaicha, Marta Zawadzka, Maria Mazurkiewicz-Bełdzińska, Carmen Fons, Jennifer Anticona, Elisa De Grandis, Ramona Cordani, Livia Pisciotta, Sergiu Groppa, Sandra Paryjas, Francesca Ragona, Elena Mangia, Tiziana Granata, Andrey Megvinov, Mirjana Pavlicek, Kevin Ess, Christine Q. Simmons, Alfred L. George, Rosaria Vavassori, Mohamad A. Mikati, Andrew P. Landstrom

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants : a retrospective cohort study

Bron
Epilepsia - ISSN 0013-9580- (2025) p.
Auteur(s)
    Matthias De Wachter, Charissa Millevert, Joost Nicolai, Elisabeth Cats, Gerhard Kluger, Mathieu Milh, Robin Cloarec, Steffen Syrbe, Katrijn Arts, Katrien Jansen, Magdalena Krygier, Robert Smigiel, Stephane Auvin, Kern Olofson, Cathrine Elisabeth Gjerulfsen, Berten Ceulemans, Rikke S. Moller, Allan Bayat, Sarah Weckhuysen

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

Bron
JCI Insight - ISSN 2379-3708- (2025) p. 1-38
Auteur(s)