Suzanne de Bruijn

Chapter 1 Introduction	11
Chapter 2 Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa	77
Chapter 3 DFNA21	99
Chapter 4 Structural variants create new topological associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa	167
Chapter 5 Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant	231
Chapter 6 General discussion and perspectives	281
Chapter 7 Summary	319
Data management plan	331
List of publications	333
PhD portfolio	335
About the author	337
Acknowledgements	339
Abbreviations	347

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