Browsing by Author "Joshi, Ricky S."

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  • Joshi, Ricky S.; Rigau, Maria; García-Prieto, Carlos A.; Castro de Moura, Manuel; Piñeyro, David; Moran, Sebastian; Davalos, Veronica; Carrión, Pablo; Ferrando-Bernal, Manuel, 1990-; Olalde Marquínez, Íñigo, 1987-; Lalueza Fox, Carles, 1965-; Navarro i Cuartiellas, Arcadi, 1969-; Fernández-Tena, Carles; Aspandi, Decky; Sukno, Federico Mateo; Binefa i Valls, Xavier; Valencia, Alfonso; Esteller, Manel (Elsevier, 2022)
    The human face is one of the most visible features of our unique identity as individuals. Interestingly, monozygotic twins share almost identical facial traits and the same DNA sequence but could exhibit differences in ...
  • Quilez Oliete, Javier; Guilmatre, Audrey; Garg, Paras; Highnam, Gareth; Gymrek, Melissa; Erlich, Yaniv; Joshi, Ricky S.; Mittelman, David; Sharp, Andrew J. (Oxford University Press, 2016)
    Despite representing an important source of genetic variation, tandem repeats (TRs) remain poorly studied due to technical difficulties. We hypothesized that TRs can operate as expression (eQTLs) and methylation (mQTLs) ...
  • 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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