Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with
phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic …

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells
whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our …

Background Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two
major causes world-wide of early visual impairment, frequently leading to legal blindness …

Optic atrophy (OA) with autosomal inheritance is a form of optic neuropathy characterized by
the progressive and irreversible loss of vision. In some cases, this is accompanied by …

Aims To evaluate the clinical characteristics and causative genetic variants in autosomal
optic atrophy diagnosed using next-generation sequencing (NGS). Methods A cohort of 57 …

Objective The objective of this study was to evaluate the implementation of NGS within the
French mitochondrial network, MitoDiag, from targeted gene panels to whole exome …

Background Genomic variant prioritisation is one of the most significant bottlenecks to
mainstream genomic testing in healthcare. Tools to improve precision while ensuring high …

Background/Objectives: A heterozygous mutation in the WFS1 gene is responsible for
autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like …

Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive
visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next …