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CSVS, a crowdsourcing database of the Spanish population genetic variability.
Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium; Carracedo Á, Alonso Á, Dopazo J. Peña-Chilet M, et al. Among authors: aquino v. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. Nucleic Acids Res. 2021. PMID: 32990755 Free PMC article.
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.
Vázquez-Costa JF, Payá-Montes M, Martínez-Molina M, Jaijo T, Szymanski J, Mazón M, Sopena-Novales P; ENoD Consortium; Pérez-Tur J, Sevilla T. Vázquez-Costa JF, et al. Front Mol Neurosci. 2021 Aug 30;14:721047. doi: 10.3389/fnmol.2021.721047. eCollection 2021. Front Mol Neurosci. 2021. PMID: 34526879 Free PMC article.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Among authors: aquino v. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M. Martinez-Delgado B, et al. Among authors: aquino v. Am J Med Genet A. 2021 Mar;185(3):877-883. doi: 10.1002/ajmg.a.62017. Epub 2020 Dec 21. Am J Med Genet A. 2021. PMID: 33346930
Antiviral cellular therapy for enhancing T-cell reconstitution before or after hematopoietic stem cell transplantation (ACES): a two-arm, open label phase II interventional trial of pediatric patients with risk factor assessment.
Keller MD, Hanley PJ, Chi YY, Aguayo-Hiraldo P, Dvorak CC, Verneris MR, Kohn DB, Pai SY, Dávila Saldaña BJ, Hanisch B, Quigg TC, Adams RH, Dahlberg A, Chandrakasan S, Hasan H, Malvar J, Jensen-Wachspress MA, Lazarski CA, Sani G, Idso JM, Lang H, Chansky P, McCann CD, Tanna J, Abraham AA, Webb JL, Shibli A, Keating AK, Satwani P, Muranski P, Hall E, Eckrich MJ, Shereck E, Miller H, Mamcarz E, Agarwal R, De Oliveira SN, Vander Lugt MT, Ebens CL, Aquino VM, Bednarski JJ, Chu J, Parikh S, Whangbo J, Lionakis M, Zambidis ET, Gourdine E, Bollard CM, Pulsipher MA. Keller MD, et al. Among authors: aquino vm. Nat Commun. 2024 Apr 18;15(1):3258. doi: 10.1038/s41467-024-47057-2. Nat Commun. 2024. PMID: 38637498 Free PMC article. Clinical Trial.
224 results