Browsing by Author "Hernández Ferrer, Carles"

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  • A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
    Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle (BioMed Central, 2020)
    Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
  • Multi-omics signatures of the human early life exposome
    Maitre, Léa; Bustamante Pineda, Mariona; Hernández Ferrer, Carles; Vives Usano, Marta, 1990-; Ruiz-Arenas, Carlos; Pelegrí-Sisó, Dolors; Casas Sanahuja, Maribel; Sunyer Deu, Jordi; Nieuwenhuijsen, Mark J.; Urquiza, José M.; Borràs, Eva; Sabidó Aguadé, Eduard, 1981-; Estivill, Xavier, 1955-; González, Juan Ramón; Vrijheid, Martine (Nature Research, 2022)
    Environmental exposures during early life play a critical role in life-course health, yet the molecular phenotypes underlying environmental effects on health are poorly understood. In the Human Early Life Exposome (HELIX) ...
  • psygenet2r: a R/Bioconductor package for the analysis of psychiatric disease genes
    Gutiérrez Sacristán, Alba; Hernández Ferrer, Carles; González, Juan Ramón; Furlong, Laura I., 1971- (Oxford University Press, 2017)
    MOTIVATION: Psychiatric disorders have a great impact on morbidity and mortality. Genotype-phenotype resources for psychiatric diseases are key to enable the translation of research findings to a better care of patients. ...
  • Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
    Matalonga, Leslie; Hernández Ferrer, Carles; Piscia, Davide; Tonda, Raúl; Laurie, Steven, 1973-; Fernández Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou Ntalis, Anastasios; Corvò, Alberto; Joshi, Ricky S.; Diez, Hector; Gut, Ivo Glynne; Beltran, Sergi; Solve-RD Consortium (Nature Research, 2021)
    Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and ...

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