Hennie T Brüggenwirth

7PUBLICATIONS
83CO-AUTHORS
Cell and nuclear divisionGene expression (incl. microarray and other genome-wide approaches)Chemical and thermal processes in energy and combustionEpigenetics (incl. genome methylation and epigenomics)Microelectromechanical systems (MEMS)
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Publications (7)

|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

|Aug 21, 2025
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

Maayke A de Koning, Malgorzata I Srebniak, Esther J Oldekamp

|Aug 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.

Jean Jacobs, Hristiana Lyubenova, Sven Potelle

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

Daphne J Smits, Christophe Debuy, Alice S Brooks

|Oct 04, 2024
Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.

M O Mol, T J van Ham, N Bannink

|Apr 16, 2024
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner

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