David Baux

Ferroptosis regulation by the NGLY1/NFE2L1 pathway

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

Genetik des Usher-Syndroms

The molecular basis of human retinal and vitreoretinal diseases

Retinitis Pigmentosa: Genes and Disease Mechanisms

Update on Usher syndrome

Genomic and Functional Characterization of Enterococcus faecalis Isolates Recovered From the International Space Station and Their Potential for Pathogenicity

Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

Cystic fibrosis genetics: from molecular understanding to clinical application

High-throughput annotation of full-length long noncoding RNAs with capture long-read sequencing

Clinical metagenomics

Gene regulation by long non-coding RNAs and its biological functions

An Update on the Genetics of Usher Syndrome

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to theCFTRGene

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

Assessment of the latest NGS enrichment capture methods in clinical context

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect