Suzanne E. de Bruijn

The paper identifies two novel deep-intronic PCDH15 variants in Usher syndrome patients and demonstrates the efficacy of antisense oligonucleotides in correcting their splicing defects.

The paper develops a retina-specific splice prediction tool based on SpliceAI to improve identification of splice sites in the human neural retina, but it does not significantly enhance predictions for tissue-specific variants or identify novel pathogenic variants.

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

The paper generates a proteogenomic atlas of the human neural retina using long-read RNA-sequencing and mass spectrometry, identifying novel transcript isoforms and peptides.

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

The paper identifies an in-frame deletion in RIPOR2 as a frequent and highly penetrant cause of adult-onset hearing loss, with implications for genetic therapy.