TY - JOUR AU - Amanat, Sana AU - Gallego-Martinez, Alvaro AU - Sollini, Joseph AU - Perez-Carpena, Patricia AU - Espinosa-Sanchez, Juan M. AU - Aran, Ismael AU - Soto-Varela, Andres AU - Batuecas-Caletrio, Angel AU - Canlon, Barbara AU - May, Patrick AU - Cederroth, Christopher R. AU - Lopez-Escamez, Jose A. PY - 2021 DO - 10.1016/j.ebiom.2021.103309 UR - http://hdl.handle.net/10668/4136 T2 - EBioMedicine 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... LA - en PB - Elsevier B.V. KW - Tinnitus KW - Extreme phenotype KW - Axon initial segment KW - Exome sequencing KW - Meniere disease KW - Epilepsy KW - Genetic studies KW - Acúfeno KW - Fenotipo KW - Segmento inicial del axón KW - Secuenciación del exoma completo KW - Enfermedad de Meniere KW - Epilepsia KW - Estudios de asociación genética KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles KW - Medical Subject Headings::Organisms::Eukaryota::Animals KW - Medical Subject Headings::Anatomy::Nervous System::Central Nervous System::Brain KW - Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology KW - Medical Subject Headings::Check Tags::Female KW - Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetic Research::Gene Ontology KW - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies KW - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans KW - Medical Subject Headings::Check Tags::Male KW - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Mice KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype KW - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Health Surveys::Health Status Indicators::Patient Acuity::Severity of Illness Index KW - Medical Subject Headings::Geographical Locations::Geographic Locations::Europe::Scandinavia::Sweden KW - Medical Subject Headings::Anatomy::Nervous System::Synapses KW - Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Tinnitus KW - Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation KW - Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Labyrinth Diseases::Endolymphatic Hydrops::Meniere Disease KW - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Questionnaires::Self Report KW - Medical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy::Epilepsy, Generalized KW - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Cytoskeletal Proteins KW - Medical Subject Headings::Phenomena and Processes::Biological Phenomena KW - Medical Subject Headings::Psychiatry and Psychology::Mental Disorders KW - Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics KW - Medical Subject Headings::Anatomy::Nervous System::Neurons TI - Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study TY - research article ER -