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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics. 2023 Feb;54(1):31-36. doi: 10.1055/a-1947-8411. Epub 2022 Sep 20.
Neuropediatrics. 2023.
PMID: 36126956
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Hidalgo Mayoral I, Martínez-Salio A, Llamas-Velasco S, Gómez-Majón I, Arteche-López A, Quesada-Espinosa JF, Palma Milla C, Lezana Rosales JM, Pérez de la Fuente R, Juárez Rufián A, Sierra Tomillo O, Sánchez Calvín MT, Gómez Rodríguez MJ, Ramos Gómez P, Villarejo-Galende A, Díaz-Guzmán J, Ortega-Casarrubios MÁ, Calleja-Castaño P, Moreno-García M.
Hidalgo Mayoral I, et al. Among authors: sierra tomillo o.
Eur J Med Genet. 2022 Aug;65(8):104539. doi: 10.1016/j.ejmg.2022.104539. Epub 2022 Jun 12.
Eur J Med Genet. 2022.
PMID: 35705147
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Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A, Gómez Rodríguez MJ, Sánchez Calvin MT, Quesada-Espinosa JF, Lezana Rosales JM, Palma Milla C, Gómez-Manjón I, Hidalgo Mayoral I, Pérez de la Fuente R, Díaz de Bustamante A, Darnaude MT, Gil-Fournier B, Ramiro León S, Ramos Gómez P, Sierra Tomillo O, Juárez Rufián A, Arranz Cano MI, Villares Alonso R, Morales-Pérez P, Segura-Tudela A, Camacho A, Nuñez N, Simón R, Moreno-García M, Alvarez-Mora MI.
Arteche-López A, et al. Among authors: sierra tomillo o.
Genes (Basel). 2021 Apr 12;12(4):560. doi: 10.3390/genes12040560.
Genes (Basel). 2021.
PMID: 33921431
Free PMC article.
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Diagnostic yield of genetic testing in adults with sensorineural hearing loss.
Reda Del Barrio S, de Vergas Gutiérrez J, Quesada-Espinosa JF, Sánchez-Calvín MT, Gómez-Manjón I, Sierra-Tomillo O, Juárez-Rufián A, Fernández AG.
Reda Del Barrio S, et al. Among authors: sierra tomillo o.
Acta Otorrinolaringol Esp (Engl Ed). 2024 Feb 10:S2173-5735(24)00026-7. doi: 10.1016/j.otoeng.2023.10.007. Online ahead of print.
Acta Otorrinolaringol Esp (Engl Ed). 2024.
PMID: 38346493
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Genetic diagnosis of childhood sensorineural hearing loss.
Reda Del Barrio S, García Fernández A, Quesada-Espinosa JF, Sánchez-Calvín MT, Gómez-Manjón I, Sierra-Tomillo O, Juárez-Rufián A, de Vergas Gutiérrez J.
Reda Del Barrio S, et al. Among authors: sierra tomillo o.
Acta Otorrinolaringol Esp (Engl Ed). 2024 Mar-Apr;75(2):83-93. doi: 10.1016/j.otoeng.2023.07.002. Epub 2024 Jan 13.
Acta Otorrinolaringol Esp (Engl Ed). 2024.
PMID: 38224868
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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Quesada-Espinosa JF, Garzón-Lorenzo L, Lezana-Rosales JM, Gómez-Rodríguez MJ, Sánchez-Calvin MT, Palma-Milla C, Gómez-Manjón I, Hidalgo-Mayoral I, Pérez de la Fuente R, Arteche-López A, Álvarez-Mora MI, Camacho-Salas A, Cruz-Rojo J, Lázaro-Rodríguez I, Morales-Conejo M, Nuñez-Enamorado N, Bustamante-Aragones A, Simón de Las Heras R, Gomez-Cano MA, Ramos-Gómez P, Sierra-Tomillo O, Juárez-Rufián A, Gallego-Merlo J, Rausell-Sánchez L, Moreno-García M, Sánchez Del Pozo J.
Quesada-Espinosa JF, et al. Among authors: sierra tomillo o.
Neurogenetics. 2021 Oct;22(4):343-346. doi: 10.1007/s10048-021-00660-7. Epub 2021 Jul 23.
Neurogenetics. 2021.
PMID: 34296368
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Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez Rodríguez MJ, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez IJ, González Granado LI, Martin MA, Quesada-Espinosa JF, Moreno-García M.
Arteche-López A, et al. Among authors: sierra tomillo o.
Eur J Hum Genet. 2021 Oct;29(10):1520-1526. doi: 10.1038/s41431-021-00919-5. Epub 2021 Jul 15.
Eur J Hum Genet. 2021.
PMID: 34267336
Free PMC article.
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