Found: 10

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  • Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

    Published in:
    Cells (2073-4409), 2022, v. 11, n. 24, p. 4096, doi. 10.3390/cells11244096
    By:
    • Baldassarri, Margherita;
    • Zguro, Kristina;
    • Tomati, Valeria;
    • Pastorino, Cristina;
    • Fava, Francesca;
    • Croci, Susanna;
    • Bruttini, Mirella;
    • Picchiotti, Nicola;
    • Furini, Simone;
    • Pedemonte, Nicoletta;
    • Gabbi, Chiara;
    • Renieri, Alessandra;
    • Fallerini, Chiara
    Publication type:
    Article

  • CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278
    By:
    • Pavinato, Lisa;
    • Vedove, Andrea Delle;
    • Carli, Diana;
    • Ferrero, Marta;
    • Carestiato, Silvia;
    • Howe, Jennifer L;
    • Agolini, Emanuele;
    • Coviello, Domenico A;
    • van de Laar, Ingrid;
    • Au, Ping Yee Billie;
    • Gregorio, Eleonora Di;
    • Fabbiani, Alessandra;
    • Croci, Susanna;
    • Mencarelli, Maria Antonietta;
    • Bruno, Lucia P;
    • Renieri, Alessandra;
    • Veltra, Danai;
    • Sofocleous, Christalena;
    • Faivre, Laurence;
    • Mazel, Benoit
    Publication type:
    Article

  • An explainable model of host genetic interactions linked to COVID-19 severity.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-04073-6
    By:
    • Onoja, Anthony;
    • Picchiotti, Nicola;
    • Fallerini, Chiara;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • GEN-COVID Multicenter Study;
    • Mari, Francesca;
    • Daga, Sergio;
    • Benetti, Elisa;
    • Bruttini, Mirella;
    • Palmieri, Maria;
    • Croci, Susanna;
    • Amitrano, Sara;
    • Meloni, Ilaria;
    • Frullanti, Elisa;
    • Doddato, Gabriella;
    • Lista, Mirjam;
    • Beligni, Giada;
    • Valentino, Floriana;
    • Zguro, Kristina
    Publication type:
    Article

  • HLA‐DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID‐19.

    Published in:
    HLA: Immune Response Genetics, 2024, v. 103, n. 1, p. 1, doi. 10.1111/tan.15251
    By:
    • Farias, Ticiana D. J.;
    • Brugiapaglia, Silvia;
    • Croci, Susanna;
    • Magistroni, Paola;
    • Curcio, Claudia;
    • Zguro, Kristina;
    • Fallerini, Chiara;
    • Fava, Francesca;
    • Pettini, Francesco;
    • Kichula, Katherine M.;
    • Pollock, Nicholas R.;
    • Font‐Porterias, Neus;
    • Palmer, William H.;
    • Marin, Wesley M.;
    • Baldassarri, Margherita;
    • Bruttini, Mirella;
    • Hollenbach, Jill A.;
    • Hendricks, Audrey E.;
    • Meloni, Ilaria;
    • Novelli, Francesco
    Publication type:
    Article

  • Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.

    Published in:
    2023
    By:
    • Fallerini, Chiara;
    • Daga, Sergio;
    • Benetti, Elisa;
    • Picchiotti, Nicola;
    • Zguro, Kristina;
    • Catapano, Francesca;
    • Baroni, Virginia;
    • Lanini, Simone;
    • Bucalossi, Alessandro;
    • Marotta, Giuseppe;
    • Colombo, Francesca;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Beligni, Giada;
    • Di Sarno, Laura;
    • Alaverdian, Diana;
    • Palmieri, Maria;
    • Croci, Susanna;
    • Isidori, Andrea M.;
    • Furini, Simone
    Publication type:
    Correction Notice

  • SELP Asp603Asn and severe thrombosis in COVID-19 males.

    Published in:
    2021
    By:
    • Fallerini, Chiara;
    • Daga, Sergio;
    • Benetti, Elisa;
    • Picchiotti, Nicola;
    • Zguro, Kristina;
    • Catapano, Francesca;
    • Baroni, Virginia;
    • Lanini, Simone;
    • Bucalossi, Alessandro;
    • Marotta, Giuseppe;
    • Colombo, Francesca;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Beligni, Giada;
    • Di Sarno, Laura;
    • Alaverdian, Diana;
    • Palmieri, Maria;
    • Croci, Susanna;
    • Isidori, Andrea M.;
    • Furini, Simone
    Publication type:
    Letter

  • Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 147, doi. 10.1007/s00439-021-02397-7
    By:
    • Fallerini, Chiara;
    • Picchiotti, Nicola;
    • Baldassarri, Margherita;
    • Zguro, Kristina;
    • Daga, Sergio;
    • Fava, Francesca;
    • Benetti, Elisa;
    • Amitrano, Sara;
    • Bruttini, Mirella;
    • Palmieri, Maria;
    • Croci, Susanna;
    • Lista, Mirjam;
    • Beligni, Giada;
    • Valentino, Floriana;
    • Meloni, Ilaria;
    • Tanfoni, Marco;
    • Minnai, Francesca;
    • Colombo, Francesca;
    • Cabri, Enrico;
    • Fratelli, Maddalena
    Publication type:
    Article

  • Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey.

    Published in:
    Children, 2023, v. 10, n. 9, p. 1442, doi. 10.3390/children10091442
    By:
    • Leoncini, Silvia;
    • Boasiako, Lidia;
    • Lopergolo, Diego;
    • Altamura, Maria;
    • Fazzi, Caterina;
    • Canitano, Roberto;
    • Grosso, Salvatore;
    • Meloni, Ilaria;
    • Baldassarri, Margherita;
    • Croci, Susanna;
    • Renieri, Alessandra;
    • Mastrangelo, Mario;
    • De Felice, Claudio
    Publication type:
    Article

  • Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.

    Published in:
    Respiratory Research, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12931-023-02458-7
    By:
    • Bergantini, Laura;
    • Baldassarri, Margherita;
    • d'Alessandro, Miriana;
    • Brunelli, Giulia;
    • Fabbri, Gaia;
    • Zguro, Kristina;
    • Degl'Innocenti, Andrea;
    • GEN-COVID Multicenter study;
    • Mari, Francesca;
    • Daga, Sergio;
    • Meloni, Ilaria;
    • Bruttini, Mirella;
    • Croci, Susanna;
    • Lista, Mirjam;
    • Maffeo, Debora;
    • Pasquinelli, Elena;
    • Serio, Viola Bianca;
    • Antolini, Enrica;
    • Basso, Simona Letizia;
    • Minetto, Samantha
    Publication type:
    Article

  • Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.

    Published in:
    Respiratory Research, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12931-023-02458-7
    By:
    • Bergantini, Laura;
    • Baldassarri, Margherita;
    • d'Alessandro, Miriana;
    • Brunelli, Giulia;
    • Fabbri, Gaia;
    • Zguro, Kristina;
    • Degl'Innocenti, Andrea;
    • GEN-COVID Multicenter study;
    • Mari, Francesca;
    • Daga, Sergio;
    • Meloni, Ilaria;
    • Bruttini, Mirella;
    • Croci, Susanna;
    • Lista, Mirjam;
    • Maffeo, Debora;
    • Pasquinelli, Elena;
    • Serio, Viola Bianca;
    • Antolini, Enrica;
    • Basso, Simona Letizia;
    • Minetto, Samantha
    Publication type:
    Article