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Pablo Roman-Naranjo
Pablo Roman-Naranjo
Genyo
Verified email at genyo.es
Title
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Cited by
Year
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
622020
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, 423463, 2019
442019
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
312020
Systematic review of sequencing studies and gene expression profiling in familial Meniere disease
A Escalera-Balsera, P Roman-Naranjo, JA Lopez-Escamez
Genes 11 (12), 1414, 2020
302020
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
282021
Genetics of vestibular syndromes
P Roman-Naranjo, A Gallego-Martinez, JAL Escamez
Current opinion in neurology 31 (1), 105-110, 2018
262018
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
162022
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, 104429, 2023
92023
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
A Gallego-Martinez, A Escalera-Balsera, N Trpchevska, P Robles-Bolivar, ...
npj Genomic Medicine 7 (1), 70, 2022
82022
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
32019
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
22023
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
22022
Clinical and molecular genetics of Meniere disease
E Martinez-Gomez, A Gallego-Martinez, P Roman-Naranjo, ...
Medizinische Genetik 32 (2), 141-148, 2020
22020
Ultrarare missense and frameshift variants in the TECTA gene may involve tectorial membrane in familial Meniere disease
P Román-Naranjo, AM Parra-Perez, A Escalera-Balsera, A Soto-Varela, ...
medRxiv, 2022.02. 18.22270926, 2022
12022
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
12019
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
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
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
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
Defective฀-tectorin may involve tectorial membrane in familial Meniere
P Roman‐Naranjo, AM Parra‐Perez, A Escalera‐Balsera, A Soto‐Varela, ...
2022
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