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Page 1
Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.
Pardo-Palacios FJ, Wang D, Reese F, Diekhans M, Carbonell-Sala S, Williams B, Loveland JE, De María M, Adams MS, Balderrama-Gutierrez G, Behera AK, Gonzalez JM, Hunt T, Lagarde J, Liang CE, Li H, Jerryd Meade M, Moraga Amador DA, Prjibelski AD, Birol I, Bostan H, Brooks AM, Hasan Çelik M, Chen Y, Du MRM, Felton C, Göke J, Hafezqorani S, Herwig R, Kawaji H, Lee J, Liang Li J, Lienhard M, Mikheenko A, Mulligan D, Ming Nip K, Pertea M, Ritchie ME, Sim AD, Tang AD, Kei Wan Y, Wang C, Wong BY, Yang C, Barnes I, Berry A, Capella S, Dhillon N, Fernandez-Gonzalez JM, Ferrández-Peral L, Garcia-Reyero N, Goetz S, Hernández-Ferrer C, Kondratova L, Liu T, Martinez-Martin A, Menor C, Mestre-Tomás J, Mudge JM, Panayotova NG, Paniagua A, Repchevsky D, Rouchka E, Saint-John B, Sapena E, Sheynkman L, Laird Smith M, Suner MM, Takahashi H, Youngworth IA, Carninci P, Denslow ND, Guigó R, Hunter ME, Tilgner HU, Wold BJ, Vollmers C, Frankish A, Fai Au K, Sheynkman GM, Mortazavi A, Conesa A, Brooks AN. Pardo-Palacios FJ, et al. Among authors: hernandez ferrer c. bioRxiv [Preprint]. 2023 Jul 27:2023.07.25.550582. doi: 10.1101/2023.07.25.550582. bioRxiv. 2023. PMID: 37546854 Free PMC article. Preprint.
Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.
Ruiz-Arenas C, Abarrategui L, Hernandez-Ferrer C, Escribà-Montagut X, Pelegrí-Sisó D, Ryser-Welch P, Vrijheid M, Bustamante M, Grazuleviciene R, Lepeule J, Mathai M, Vafeiadi M, Beltran S, Pérez-Jurado LA, González JR. Ruiz-Arenas C, et al. Among authors: hernandez ferrer c. Epigenetics. 2023 Dec;18(1):2230670. doi: 10.1080/15592294.2023.2230670. Epigenetics. 2023. PMID: 37409354 Free PMC article.
Multi-omics signatures of the human early life exposome.
Maitre L, Bustamante M, Hernández-Ferrer C, Thiel D, Lau CE, Siskos AP, Vives-Usano M, Ruiz-Arenas C, Pelegrí-Sisó D, Robinson O, Mason D, Wright J, Cadiou S, Slama R, Heude B, Casas M, Sunyer J, Papadopoulou EZ, Gutzkow KB, Andrusaityte S, Grazuleviciene R, Vafeiadi M, Chatzi L, Sakhi AK, Thomsen C, Tamayo I, Nieuwenhuijsen M, Urquiza J, Borràs E, Sabidó E, Quintela I, Carracedo Á, Estivill X, Coen M, González JR, Keun HC, Vrijheid M. Maitre L, et al. Among authors: hernandez ferrer c. Nat Commun. 2022 Nov 21;13(1):7024. doi: 10.1038/s41467-022-34422-2. Nat Commun. 2022. PMID: 36411288 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.
Ruiz-Arenas C, Hernandez-Ferrer C, Vives-Usano M, Marí S, Quintela I, Mason D, Cadiou S, Casas M, Andrusaityte S, Gutzkow KB, Vafeiadi M, Wright J, Lepeule J, Grazuleviciene R, Chatzi L, Carracedo Á, Estivill X, Marti E, Escaramís G, Vrijheid M, González JR, Bustamante M. Ruiz-Arenas C, et al. Among authors: hernandez ferrer c. Elife. 2022 Mar 18;11:e65310. doi: 10.7554/eLife.65310. Elife. 2022. PMID: 35302492 Free PMC article.
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: hernandez ferrer c. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Among authors: hernandez ferrer c. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Variability of multi-omics profiles in a population-based child cohort.
Gallego-Paüls M, Hernández-Ferrer C, Bustamante M, Basagaña X, Barrera-Gómez J, Lau CE, Siskos AP, Vives-Usano M, Ruiz-Arenas C, Wright J, Slama R, Heude B, Casas M, Grazuleviciene R, Chatzi L, Borràs E, Sabidó E, Carracedo Á, Estivill X, Urquiza J, Coen M, Keun HC, González JR, Vrijheid M, Maitre L. Gallego-Paüls M, et al. Among authors: hernandez ferrer c. BMC Med. 2021 Jul 22;19(1):166. doi: 10.1186/s12916-021-02027-z. BMC Med. 2021. PMID: 34289836 Free PMC article.
The early-life exposome and epigenetic age acceleration in children.
de Prado-Bert P, Ruiz-Arenas C, Vives-Usano M, Andrusaityte S, Cadiou S, Carracedo Á, Casas M, Chatzi L, Dadvand P, González JR, Grazuleviciene R, Gutzkow KB, Haug LS, Hernandez-Ferrer C, Keun HC, Lepeule J, Maitre L, McEachan R, Nieuwenhuijsen MJ, Pelegrí D, Robinson O, Slama R, Vafeiadi M, Sunyer J, Vrijheid M, Bustamante M. de Prado-Bert P, et al. Among authors: hernandez ferrer c. Environ Int. 2021 Oct;155:106683. doi: 10.1016/j.envint.2021.106683. Epub 2021 Jun 15. Environ Int. 2021. PMID: 34144479 Free article.
34 results