Frans P.M. Cremers

This paper reanalyzes short-read WGS data and applies long-read WGS to improve genetic diagnosis of inherited retinal disease cases that were previously unresolved.

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.

RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.

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 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 classifies 2,247 ABCA4 variants using updated ACMG/AMP guidelines to improve genetic diagnosis and counseling for Stargardt Disease.

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 uses smMIPs to sequence MD-associated genes and loci in patients, achieving high coverage and a 38% diagnostic yield.

The paper estimates genetic risk for offspring of Stargardt disease patients based on ABCA4 variant severity and penetrance, finding varying risks depending on parental genotypes.

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.

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.

This study analyzes genetic mutations in 27 German LCA patients, identifying 93% pathogenic variants using MIP-based sequencing and highlighting the importance of genetic testing in IRD diagnosis.