| A burden of rare missense variants supports OTOG as a frequent gene in familial Meniere disease P Roman-Naranjo, P Robles-Bolivar, MC Moleon, A Soto-Varela, I Aran, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 131-131, 2022 | | 2022 |
| A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss P Robles-Bolivar, D Bächinger, AM Parra-Perez, P Román-Naranjo, ... European Journal of Human Genetics 30 (11), 1301-1305, 2022 | 2 | 2022 |
| A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases P Roman-Naranjo, AM Parra-Perez, JA Lopez-Escamez Journal of biomedical informatics 143, 104429, 2023 | 9 | 2023 |
| A systematic review on machine learning approaches in the diagnosis of rare genetic diseases P Roman-Naranjo, AM Parra-Perez, JA Lopez-Escamez medRxiv, 2023.01. 30.23285203, 2023 | | 2023 |
| Burden of missense variants in hearing loss genes in sporadic Meniere disease A Gallego-Martinez, T Requena, P Roman-Naranjo, J Lopez-Escamez EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1231-1231, 2019 | 1 | 2019 |
| Burden of rare variants in OTOF gene in familial Meniere disease P Roman-Naranjo, CA Jimenez-Ruiz, MC Moleon, A Gallego-Martinez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1232-1232, 2019 | | 2019 |
| Burden of rare variants in the OTOG gene in familial Meniere’s disease P Roman-Naranjo, A Gallego-Martinez, A Soto-Varela, I Aran, ... Ear and hearing 41 (6), 1598-1605, 2020 | 62 | 2020 |
| Clinical and molecular genetics of Meniere disease E Martinez-Gomez, A Gallego-Martinez, P Roman-Naranjo, ... Medizinische Genetik 32 (2), 141-148, 2020 | 2 | 2020 |
| Defective α‐tectorin may involve tectorial membrane in familial Meniere disease P Roman‐Naranjo, AM Parra‐Perez, A Escalera‐Balsera, A Soto‐Varela, ... Clinical and Translational Medicine 12 (6), 2022 | 17 | 2022 |
| Defective-tectorin may involve tectorial membrane in familial Meniere P Roman‐Naranjo, AM Parra‐Perez, A Escalera‐Balsera, A Soto‐Varela, ... | | 2022 |
| Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease A Gallego-Martinez, T Requena, P Roman-Naranjo, P May, ... Journal of Medical Genetics 57 (2), 82-88, 2020 | 32 | 2020 |
| Evaluation of machine learning models for the detection of familial predisposition in Meniere's disease P Roman-Naranjo, A Escalera-Balsera, A Gallego-Martinez, C Ayuso, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 378-379, 2024 | | 2024 |
| Excess of rare missense variants in hearing loss genes in sporadic Meniere disease A Gallego-Martinez, T Requena, P Roman-Naranjo, JA Lopez-Escamez Frontiers in genetics 10, 76, 2019 | 46 | 2019 |
| Genetics of vestibular syndromes P Roman-Naranjo, A Gallego-Martinez, JAL Escamez Current opinion in neurology 31 (1), 105-110, 2018 | 27 | 2018 |
| Identification of ADAMTS18 and SDK1 genes in patients with Meniere Disease with endolymphatic sac hypoplasia P Robles, D Baechinger, A Escalera-Balsera, A Gallego-Martinez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 376-377, 2024 | | 2024 |
| Novel and ultrarare allelic variants in DIABLO and SLC7A8 genes in familial Meniere's disease P Roman-Naranjo, A Gallego-Martinez, MC Moleon-Gonzalez, DR Bobbili, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 58-59, 2019 | | 2019 |
| Rare coding variants in patients with non-syndromic vestibular dysfunction AAM Sumalde, MA Scholes, OA Kalmanson, EA Terhune, L Frejo, ... Genes 14 (4), 831, 2023 | 2 | 2023 |
| Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease P Roman-Naranjo, MDC Moleon, I Aran, A Escalera-Balsera, ... Hearing Research 409, 108329, 2021 | 28 | 2021 |
| Rare missense variants and frameshift deletions in TECTA gene in familial Meniere disease AM Parra-Perez, P Román-Naranjo SATELLITE-07-SATURDAY, 0 | | |
| Rare Variants in the OTOG Gene Are a Frequent Cause of Familial Meniere’s Disease P Roman-Naranjo, A Gallego-Martinez, A Soto-Varela, I Aran, MC Moleon, ... bioRxiv, 771527, 2019 | 3 | 2019 |
