Author
Erasmus MCORCID 0000-0002-8026-406XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson…·Adeline L. Vanderver
This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.
Alexandra de la Porte, Julia Schröder, Moritz Thomas…·Micha Drukker
The paper identifies glycogen metabolism differences in pluripotent cells across species that influence neural differentiation speed.
Jordy Dekker, Wendy Lam, Herma C. van der Linde…·Tjakko J. van Ham
This study shows TMX2 is essential for newborn neuron survival during zebrafish embryonic brain development, with loss causing rapid cell death and calcium dysregulation.
Ruizhi Deng, Elena Perenthaler, Anita Nikoncuk…·Tahsin Stefan Barakat
The paper develops BRAIN-MAGNET, a convolutional neural network that predicts non-coding regulatory element activity and helps prioritize disease-causing variants in neurogenetic disorders.