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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Among authors: pico amador d. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.
Corvò A, Matalonga L, Spalding D, Senf A, Laurie S, Picó-Amador D, Fernandez-Callejo M, Paramonov I, Romero AF, Garcia-Rios E, Ciges JI, Mohan A, Thomas C, Silva Valencia AF, Halmagyi C, Freeberg MA, Töpf A, Horvath R, Saunders G, Gut I, Keane T, Piscia D, Beltran S. Corvò A, et al. Among authors: pico amador d. Cell Genom. 2023 Jan 11;3(2):100246. doi: 10.1016/j.xgen.2022.100246. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819661 Free PMC article.
From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation.
Ghose R, Aranguren-Ibáñez Á, Arecco N, Balboa D, Bataller M, Beltran S, Benisty H, Bénard A, Bernardo E, Carbonell Sala S, Casals E, Ciampi L, Condemi L, Corvó A, Cosín-Tomás M, Cuenca-Ardura M, Duran Serrano JM, Espejo Díaz MI, Fernandez Callejo M, Gañez-Zapater A, Garcia-Castellanos R, Garrido R, Henkin G, Hermoso Pulido T, Hernandez-Alias X, Herrero Vicente J, Ingham M, Lim WM, Llonch S, Marmesat Bertoli E, Miguel-Escalada I, Montero-Blay A, Navarrete Hernández C, Neguembor MV, Ní Chárthaigh RA, Pardo-Lorente N, Pascual-Reguant L, Pérez-Lluch S, Perza R, Pesaresi M, Picó Amador D, Pifarré P, Piscia D, Plana-Carmona M, Ponomarenko J, Radusky L, Rivero E, Rogalska M, Torcal Garcia G, Wojnacki J. Ghose R, et al. Among authors: pico amador d. F1000Res. 2020 Nov 16;9:1336. doi: 10.12688/f1000research.27497.1. eCollection 2020. F1000Res. 2020. PMID: 34745570 Free PMC article.