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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: ramos s. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P. Bravo-Alonso I, et al. Among authors: ramos ma. Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208. Epub 2017 Mar 20. Hum Mutat. 2017. PMID: 28244183
Osmotic stress influences microtubule drug response via WNK1 kinase signaling.
Monfort-Vengut A, Sanz-Gómez N, Ballesteros-Sánchez S, Ortigosa B, Cambón A, Ramos M, Lorenzo ÁM, Escribano-Cebrián M, Rosa-Rosa JM, Martínez-López J, Sánchez-Prieto R, Sotillo R, de Cárcer G. Monfort-Vengut A, et al. Among authors: ramos m. Drug Resist Updat. 2025 Jan 18;79:101203. doi: 10.1016/j.drup.2025.101203. Online ahead of print. Drug Resist Updat. 2025. PMID: 39855050
Reliability of Central Vein Sign Imaging With 3T FLAIR* in a Multicenter Study.
Martin ML, Cao Q, Luskin E, Renner B, Daboul L, O'Donnell CM, Rodrigues P, Derbyshire J, Azevedo CJ, Bar-Or A, Caverzasi E, Calabresi P, Cree BAC, Freeman L, Henry RG, Longbrake EE, Oh J, Papinutto N, Pelletier D, Prchkovska V, Ramos M, Samudralwar RD, Schindler MK, Sotirchos ES, Sicotte NL, Solomon AJ, Reich DS, Ontaneda D, Shinohara RT, Sati P. Martin ML, et al. Among authors: ramos m. J Neuroimaging. 2025 Jan-Feb;35(1):e70011. doi: 10.1111/jon.70011. J Neuroimaging. 2025. PMID: 39838609
Investigating the impact of screen-sharing visual aids during genomic results disclosure via telehealth in diverse families in the TeleKidSeq pilot study.
Odgis JA, Kelly NR, Sebastin M, Scarimbolo L, Insel BJ, Suckiel SA, Bonini KE, Marathe PN, Di Biase M, Brown K, Gallagher KM, Ramos MA, Rodriguez JE, Yelton N, López Aguiñiga K, Rodriguez MA, María E, Lopez J, Zinberg RE, Diaz GA, Greally JM, Abul-Husn NS, Bauman LJ, Gelb BD, Horowitz CR, Kenny EE, Wasserstein MP. Odgis JA, et al. Among authors: ramos ma. Public Health Genomics. 2025 Jan 17:1-24. doi: 10.1159/000542444. Online ahead of print. Public Health Genomics. 2025. PMID: 39827879 Free article.
3,106 results