Lies Hoefsloot

6PUBLICATIONS
190CO-AUTHORS
Sensory systemsCell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)Microelectromechanical systems (MEMS)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Oct 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Daphne J Smits, Federico Ferraro, Mark Drost

|Jul 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Daphne J Smits, Christophe Debuy, Alice S Brooks

|May 27, 2025
MCT8 Deficiency in Females.

Stefan Groeneweg, Ferdy S van Geest, Floor van der Most

|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu

|Nov 11, 2024
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.

Sina Ghasempour, Neil Warner, Rei Guan

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Frequent Collaborators

3 joint publications

Virginie J M Verhoeven

3 joint publications

Tahsin Stefan Barakat

3 joint publications

Tjakko J van Ham

2 joint publications

Bart P Leroy