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 …

Multidisciplinary tinnitus research: challenges and future directions from the perspective of early stage researchers

JP Simoes, E Daoud, M Shabbir, S Amanat… - Frontiers in aging …, 2021 - frontiersin.org
Tinnitus can be a burdensome condition on both individual and societal levels. Many
aspects of this condition remain elusive, including its underlying mechanisms, ultimately …

Novel risk loci in tinnitus and causal inference with neuropsychiatric disorders among adults of European ancestry

RE Clifford, AX Maihofer, MB Stein… - … –Head & Neck …, 2020 - jamanetwork.com
Importance Tinnitus affects at least 16 million US adults, but its pathophysiology is
complicated, and treatment options remain limited. A heritable component has been …

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 …

Association of genetic vs environmental factors in Swedish adoptees with clinically significant tinnitus

CR Cederroth, MN PirouziFard… - … –Head & Neck …, 2019 - jamanetwork.com
Importance No effective treatments are currently available for severe tinnitus, which affects
1% of the population and lowers the quality of life. The factors that contribute to the transition …

[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 …

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 …

Systematic review and meta-analysis of late auditory evoked potentials as a candidate biomarker in the assessment of tinnitus

E Cardon, I Joossen, H Vermeersch, L Jacquemin… - PLoS …, 2020 - journals.plos.org
Subjective tinnitus, the perception of sound in the absence of any sound source, is routinely
assessed using questionnaires. The subjective nature of these tools hampers objective …

Current and emerging therapies for chronic subjective tinnitus

KW Park, P Kullar, C Malhotra… - Journal of Clinical …, 2023 - mdpi.com
Importance: Chronic subjective tinnitus, the perception of sound without an external source
for longer than six months, may be a greatly debilitating condition for some people, and is …

Tinnitus, hearing loss and inflammatory processes in an older Portuguese population

HF Haider, SF Ribeiro, C Martins… - … Journal of Audiology, 2020 - Taylor & Francis
Objective: Tinnitus is associated with various conditions such as presbycusis, infectious,
autoimmune and many other diseases. Our study aims to identify an association between …