[HTML][HTML] Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study

S Amanat, A Gallego-Martinez, J Sollini… - …, 2021 - thelancet.com
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 …

Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus

A Gallego-Martinez, A Escalera-Balsera… - npj Genomic …, 2022 - nature.com
Tinnitus is the phantom percept of an internal non-verbal set of noises and tones. It is
reported by 15% of the population and it is usually associated with hearing and/or brain …

Rare deletions or large duplications contribute to genetic variation in patients with severe tinnitus and Meniere disease

A Escalera-Balsera, AM Parra-Perez… - Genes, 2023 - mdpi.com
Meniere disease (MD) is a debilitating disorder of the inner ear defined by sensorineural
hearing loss (SNHL) associated with episodes of vertigo and tinnitus. Severe tinnitus, which …

Genetics of tinnitus: an emerging area for molecular diagnosis and drug development

JA Lopez-Escamez, T Bibas, RFF Cima… - Frontiers in …, 2016 - frontiersin.org
Subjective tinnitus is the perception of sound in the absence of external or bodily-generated
sounds. Chronic tinnitus is a highly prevalent condition affecting over 70 million people in …

Genetic predisposition to tinnitus in the UK Biobank population

ME Urbanek, J Zuo - Scientific reports, 2021 - nature.com
Tinnitus, the phantom perception of noise originating from the inner ear, has been reported
by 15% of the world's population, with many patients reporting major deficits to cognition and …

A genome-wide association study of tinnitus reveals shared genetic links to neuropsychiatric disorders

IS Bhatt, N Wilson, R Dias, A Torkamani - Scientific reports, 2022 - nature.com
Tinnitus, a phantom perception of sound in the absence of any external sound source, is a
prevalent health condition often accompanied by psychiatric comorbidities. Recent genome …

A pilot genome-wide association study identifies potential metabolic pathways involved in tinnitus

A Gilles, G Van Camp, P Van de Heyning… - Frontiers in …, 2017 - frontiersin.org
Tinnitus, the perception of an auditory phantom sound in the form of ringing, buzzing,
roaring, or hissing in the absence of an external sound source, is perceived by~ 15% of the …

A systematic review of extreme phenotype strategies to search for rare variants in genetic studies of complex disorders

S Amanat, T Requena, JA Lopez-Escamez - Genes, 2020 - mdpi.com
Exome sequencing has been commonly used to characterize rare diseases by selecting
multiplex families or singletons with an extreme phenotype (EP) and searching for rare …

A Systematic Review on the Genetic Contribution to Tinnitus

P Perez-Carpena, JA Lopez-Escamez… - Journal of the …, 2024 - Springer
Purpose To assess the available evidence to support a genetic contribution and define the
role of common and rare variants in tinnitus. Methods After a systematic search and quality …

Genetics of tinnitus: still in its infancy

B Vona, I Nanda, W Shehata-Dieler… - Frontiers in neuroscience, 2017 - frontiersin.org
Tinnitus is the perception of a phantom sound that affects between 10 and 15% of the
general population. Despite this considerable prevalence, treatments for tinnitus are …