Daphne Heijsman
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 16 publications
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.
Journal: European journal of human genetics : EJHG
Published: March 24, 2025
Increased risk for thoracic aneurysms in female and familial abdominal aortic aneurysm patients.
Journal: Journal of vascular surgery
Published: January 19, 2025
The proprotein convertase FURIN is a novel aneurysm predisposition gene impairing TGF-β signalling.
Journal: Cardiovascular research
Published: May 31, 2023
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
Journal: Journal of the American Heart Association
Published: November 28, 2019
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Journal: Brain : a journal of neurology
Published: September 07, 2018
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.
Journal: The Lancet. Neurology
Published: January 23, 2018
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Journal: PLoS genetics
Published: September 07, 2016
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
Journal: The Journal of experimental medicine
Published: September 22, 2015
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
Journal: Human genetics
Published: February 08, 2015
Tumor-specific mutations in low-frequency genes affect their functional properties.
Journal: Journal of neuro-oncology
Published: October 01, 2014
Last Updated: 09/26/2026