RT Journal Article T1 Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study A1 Amanat, Sana A1 Gallego-Martinez, Alvaro A1 Sollini, Joseph A1 Perez-Carpena, Patricia A1 Espinosa-Sanchez, Juan M. A1 Aran, Ismael A1 Soto-Varela, Andres A1 Batuecas-Caletrio, Angel A1 Canlon, Barbara A1 May, Patrick A1 Cederroth, Christopher R. A1 Lopez-Escamez, Jose A. K1 Tinnitus K1 Extreme phenotype K1 Axon initial segment K1 Exome sequencing K1 Meniere disease K1 Epilepsy K1 Genetic studies K1 Acúfeno K1 Fenotipo K1 Segmento inicial del axón K1 Secuenciación del exoma completo K1 Enfermedad de Meniere K1 Epilepsia K1 Estudios de asociación genética AB 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 relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies include individuals with self-reported tinnitus and large heterogeneity in the phenotype. The aim of this study was to identify genes for severe tinnitus in patients with extreme phenotype. PB Elsevier B.V. YR 2021 FD 2021-04-01 LK http://hdl.handle.net/10668/4136 UL http://hdl.handle.net/10668/4136 LA en NO Amanat S, Gallego-Martinez A, Sollini J, Perez-Carpena P, Espinosa-Sanchez JM, Aran I, et al. Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine. 2021 Apr;66:103309. doi: 10.1016/j.ebiom.2021.103309. DS RISalud RD Apr 4, 2025