Author
Amsterdam UMC Location University of AmsterdamORCID 0000-0003-4874-2487Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Aleksandra Mitina, Yue Yin, Robert Lesurf…·Ryan K. C. Yuen
This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester…·Seema R. Mital
The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.
Michele Nicastro, Alexa M.C. Vermeer, Pieter Gerard Postema…·Najim Lahrouchi
Enrique Audain, Anna Wilsdon, Jeroen Breckpot…·MP Hitz
The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.
Donna J. Page, Matthieu J. Miossec, Simon G. Williams…·Bernard D. Keavney
The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.