Suzanne de Bruijn

348 Chapter 8 ERG electroretinography EVA enlarged vestibular aqueduct FAF fundus autofluorescent FISH fluorescent in situ hybridization GO Gene Ontology GWAS genome-wide association study HBSS Hank’s balanced salt solution HGMD Human Gene Mutation Database HL hearing loss Hz hertz IMPC International Mouse Phenotyping Consortium iPSC induced pluripotent stem cell IRD inherited retinal diseases ISO international organization for standardization IVF in vitro fertilization kb kilobase LINE long interspersed nuclear element LNA locked-nucleic acid lncRNA long noncoding RNA LOD logarithm of the odds LOVD Leiden Open (source) Variation Database LPA lysophosphatidic acid LRS long-read sequencing Lyso-PC lysophosphatidylcholine LysoPLD lysophospholipase D MAF minor allele frequency Mb megabase MIP molecular inversion probe miRNA microRNA MKS Meckel syndrome NGS next generation sequencing NIPT non-invasive prenatal testing nm nanometer NRV neuronal retinal vesicle nt nucleotide OCT optical coherence tomography OMIM Online Mendelian Inheritance in Man oVEMP ocular vestibular-evoked myogenic potential PCR polymerase chain reaction