Suzanne E. de Bruijn

Author

Radboud University Medical Center ORCID

Also Known As

Suzanne E de Bruijn, Suzanne E. de Bruijn

Publications

401

Citations

H-Index

Concepts

All Affiliations

Radboud University Medical Center Radboud University Nijmegen Radboud Institute for Molecular Life Sciences Rotterdam Eye Hospital Technion – Israel Institute of Technology

About

Suzanne E. de Bruijn is an author at Radboud University Medical Center specializing in medicine, molecular genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	186
2	Cell Biology	2	2	166
3	Molecular Genetics	2	2	138
4	Engineering	1	1	20
5	Social Sciences	1	1	48

Suzanne E. de Bruijn

Publications

342

Citations

H-Index

Page 1

	Year	Citations
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa Suzanne E. de Bruijn, Alessia Fiorentino, Stephanie Fanucchi, The American Journal of Human Genetics Retinal OrganoidsStructural VariantsDominant Retinitis PigmentosaOcular DiseasePhotoreceptor Cell	2020	118
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse Mieke Wesdorp, Silvia Murillo‐Cuesta, Theo Peters, The American Journal of Human Genetics Developmental BiologyMolecular PhysiologyMolecular NeuroscienceAuditory PhysiologyNeuroscience	2018	48
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Genetics in Medicine	2022	39
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Human Genetics and Genomics Advances	2023	27
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Frontiers in Cell and Developmental Biology	2023	26
Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes Erik de Vrieze, Suzanne E. de Bruijn, Janine Reurink, International Journal of Molecular Sciences EngineeringGeneticsMolecular GeneticsEpigeneticsZebrafish Genome	2021	20
A <i>RIPOR2</i> in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss Suzanne E. de Bruijn, Jeroen J. Smits, Chang Liu, Journal of Medical Genetics	2020	19
Homozygous variants in <i>KIAA1549</i>, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa Suzanne E. de Bruijn, Sanne K. Verbakel, Erik de Vrieze, Journal of Medical Genetics	2018	17
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant Jeroen J. Smits, Suzanne E. de Bruijn, Jaap Oostrik, Human Genetics	2021	15
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková,	2025	13

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