Genome-wide association studies using large-scale genome and exome sequencing data
have become increasingly valuable in identifying associations between genetic variants and …

Abstract The 2022 Nucleic Acids Research Database Issue contains 185 papers, including
87 papers reporting on new databases and 85 updates from resources previously published …

Familial Meniere Disease (FMD) is a rare inner ear disorder characterized by episodic
vertigo associated with sensorineural hearing loss, tinnitus and/or aural fullness. We …

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The
incorporation of next-generation sequencing into clinical settings, particularly exome and …

The MYO7A gene encodes a motor protein with a key role in the organization of stereocilia
in auditory and vestibular hair cells. Rare variants in the MYO7A (myosin VIIA) gene may …

Background tinnitus is a heterogeneous condition associated with audiological and/or
mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a …

While constitutional pathogenic variants in the APC gene cause familial adenomatous
polyposis, APC c. 3920T> A; p. Ile1307Lys (I1307K) has been associated with a moderate …

Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of
disorders that often severely impair vision. Some patients manifest poor central vision as the …

Identification of genomic variability in population plays an important role in the clinical
diagnostics of human genetic diseases. Thanks to rapid technological development in the …

Background and Aims A variant (p. Arg225Trp) of peroxisomal acyl‐CoA oxidase 2
(ACOX2), involved in bile acid (BA) side‐chain shortening, has been associated with …