| New age-related hearing loss candidate genes in humans: An ongoing challenge M Di Stazio, A Morgan, M Brumat, S Bassani, D Dell'Orco, V Marino, ... Gene 742, 144561, 2020 | 11 | 2020 |
| Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss G Girotto, A Morgan, N Krishnamoorthy, M Cocca, M Brumat, S Bassani, ... Frontiers in Genetics 10, 142, 2019 | 11 | 2019 |
| Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss S Bassani, E van Beelen, M Rossel, N Voisin, A Morgan, Y Arribat, ... Human Molecular Genetics 30 (19), 1785-1796, 2021 | 6 | 2021 |
| Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect F Yang, A Begemann, N Reichhart, A Haeckel, K Steindl, ... The American Journal of Human Genetics, 2024 | | 2024 |
| Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles S Bassani, J Chrast, G Ambrosini, N Voisin, F Schütz, A Brusco, F Sirchia, ... medRxiv, 2024 | | 2024 |
| Biallelic variants in BRF2 are associated with craniofacial anomalies and cognitive impairment A Hebert, S Bassani, F Mattioli, N Ibrahim, F Palombo, T Pippucci, N Nouri, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 61-61, 2024 | | 2024 |
| Identificazione e caratterizzazione funzionale di nuovi geni candidati e varianti associate a Sordità Ereditaria e Presbiacusia S Bassani Università degli Studi di Trieste, 2021 | | 2021 |
| Whole Exome Sequencing, Molecular Assays, Immunohistology and Animal Models associate USP48 to Hereditary Hearing Loss S Bassani, A Morgan, M Cocca, N Voisin, J Chrast, S Pradervand, N Guex, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 45-46, 2020 | | 2020 |
| NGS and animal model reveal SLC9A3R1 as a new gene involved in human age-related hearing loss (ARHL) A Morgan, M Brumat, M Cocca, M Di Stazio, S Bassani, M La Bianca, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 866-866, 2019 | | 2019 |
