Jordy Dekker

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

P. J. van der Spek, G. Mancini, A. Bertoli-Avella, 2022, Human Genetics.

Impact of bacterial species and baseline resistance on fosfomycin efficacy in urinary tract infections.

A. Peleg, J. Meletiadis, J. Mouton, 2019, The Journal of antimicrobial chemotherapy.

A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.

M. Weerts, G. Mancini, M. V. van Slegtenhorst, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes

G. Schaaf, E. Bindels, H. C. van der Linde, 2020, bioRxiv.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

L. Hoefsloot, G. Geeven, G. Mancini, 2023, American journal of human genetics.

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

M. Fornerod, M. Lequin, G. Mancini, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Efficacy of single and multiple oral doses of fosfomycin against Pseudomonas aeruginosa urinary tract infections in a dynamic in vitro bladder infection model.

A. Peleg, J. Meletiadis, J. Mouton, 2020, The Journal of antimicrobial chemotherapy.

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

L. Nguyen, R. Poot, G. Mancini, 2023, Brain : a journal of neurology.