Found: 38

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  • 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

  • Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.

    Published in:
    Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 558, doi. 10.3390/jpm11060558
    By:
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Fallerini, Chiara;
    • Daga, Sergio;
    • Benetti, Elisa;
    • Zguro, Kristina;
    • Amitrano, Sara;
    • Valentino, Floriana;
    • Doddato, Gabriella;
    • Giliberti, Annarita;
    • Di Sarno, Laura;
    • Palmieri, Maria;
    • Carriero, Miriam Lucia;
    • Alaverdian, Diana;
    • Beligni, Giada;
    • Iuso, Nicola;
    • Castelli, Francesco;
    • Quiros-Roldan, Eugenia;
    • Mondelli, Mario Umberto;
    • Miceli, Rosalba
    Publication type:
    Article

  • 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

  • Effects of the Rho GTPase‐activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study.

    Published in:
    Journal of Cellular & Molecular Medicine, 2023, v. 27, n. 10, p. 1315, doi. 10.1111/jcmm.17624
    By:
    • Cittadini, Camilla;
    • Germinario, Elena Angela Pia;
    • Maroccia, Zaira;
    • Cosentino, Livia;
    • Maselli, Valeria;
    • Gambardella, Lucrezia;
    • Giambenedetti, Massimo;
    • Guidotti, Marco;
    • Travaglione, Sara;
    • Fallerini, Chiara;
    • Renieri, Alessandra;
    • Marcillo, David Israel Escobar;
    • Ricceri, Laura;
    • Fortini, Paola;
    • De Filippis, Bianca;
    • Fiorentini, Carla;
    • Fabbri, Alessia
    Publication type:
    Article

  • A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome.

    Published in:
    Vascular, 2021, v. 29, n. 1, p. 85, doi. 10.1177/1708538120936421
    By:
    • Palmieri, Maria;
    • Pinto, Anna Maria;
    • di Blasio, Laura;
    • Currò, Aurora;
    • Monica, Valentina;
    • Sarno, Laura Di;
    • Doddato, Gabriella;
    • Baldassarri, Margherita;
    • Frullanti, Elisa;
    • Giliberti, Annarita;
    • Mussolin, Benedetta;
    • Fallerini, Chiara;
    • Molinaro, Francesco;
    • Vaghi, Massimo;
    • Renieri, Alessandra;
    • Primo, Luca
    Publication type:
    Article

  • 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

  • Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 936, doi. 10.3390/brainsci11070936
    By:
    • Valentino, Floriana;
    • Bruno, Lucia Pia;
    • Doddato, Gabriella;
    • Giliberti, Annarita;
    • Tita, Rossella;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Bruttini, Mirella;
    • Lo Rizzo, Caterina;
    • Mencarelli, Maria Antonietta;
    • Mari, Francesca;
    • Pinto, Anna Maria;
    • Fava, Francesca;
    • Baldassarri, Margherita;
    • Fabbiani, Alessandra;
    • Lamacchia, Vittoria;
    • Benetti, Elisa;
    • Zguro, Kristina;
    • Furini, Simone;
    • Renieri, Alessandra
    Publication type:
    Article

  • Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.761264
    By:
    • Doddato, Gabriella;
    • Fabbiani, Alessandra;
    • Fallerini, Chiara;
    • Bruttini, Mirella;
    • Hadjistilianou, Theodora;
    • Landi, Martino;
    • Coradeschi, Caterina;
    • Grosso, Salvatore;
    • Tomasini, Barbara;
    • Mencarelli, Maria Antonietta;
    • Renieri, Alessandra;
    • Ariani, Francesca
    Publication type:
    Article

  • Advances in Alport syndrome diagnosis using next-generation sequencing.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 1, p. 50, doi. 10.1038/ejhg.2011.164
    By:
    • Artuso, Rosangela;
    • Fallerini, Chiara;
    • Dosa, Laura;
    • Scionti, Francesca;
    • Clementi, Maurizio;
    • Garosi, Guido;
    • Massella, Laura;
    • Epistolato, Maria Carmela;
    • Mancini, Roberta;
    • Mari, Francesca;
    • Longo, Ilaria;
    • Ariani, Francesca;
    • Renieri, Alessandra;
    • Bruttini, Mirella
    Publication type:
    Article

  • Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.

    Published in:
    Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1213283
    By:
    • Serio, Viola Bianca;
    • Palmieri, Maria;
    • Innamorato, Simona;
    • Loberti, Lorenzo;
    • Fallerini, Chiara;
    • Ariani, Francesca;
    • Antolini, Enrica;
    • Covarelli, Jasmine;
    • Vaghi, Massimo;
    • Frullanti, Elisa;
    • Renieri, Alessandra;
    • Maria Pinto, Anna
    Publication type:
    Article

  • Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1143795
    By:
    • Doddato, Gabriella;
    • Fabbiani, Alessandra;
    • Fallerini, Chiara;
    • Bruttini, Mirella;
    • Hadjistilianou, Theodora;
    • Landi, Martino;
    • Coradeschi, Caterina;
    • Grosso, Salvatore;
    • Tomasini, Barbara;
    • Mencarelli, Maria Antonietta;
    • Renieri, Alessandra;
    • Ariani, Francesca
    Publication type:
    Article

  • Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.

    Published in:
    Cancer Research & Treatment, 2018, v. 50, n. 2, p. 356, doi. 10.4143/crt.2017.125
    By:
    • Baldassarri, Margherita;
    • Fallerini, Chiara;
    • Cetta, Francesco;
    • Ghisalberti, Marco;
    • Bellan, Cristiana;
    • Furini, Simone;
    • Spiga, Ottavia;
    • Crispino, Sergio;
    • Gotti, Giuseppe;
    • Ariani, Francesca;
    • Paladini, Piero;
    • Renieri, Alessandra;
    • Frullanti, Elisa
    Publication type:
    Article

  • Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics.

    Published in:
    Genes, 2021, v. 12, n. 10, p. 1605, doi. 10.3390/genes12101605
    By:
    • Cupaioli, Francesca Anna;
    • Fallerini, Chiara;
    • Mencarelli, Maria Antonietta;
    • Perticaroli, Valentina;
    • Filippini, Virginia;
    • Mari, Francesca;
    • Renieri, Alessandra;
    • Mezzelani, Alessandra
    Publication type:
    Article

  • Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.

    Published in:
    Genes, 2021, v. 12, n. 4, p. 596, doi. 10.3390/genes12040596
    By:
    • Monticelli, Maria;
    • Hay Mele, Bruno;
    • Benetti, Elisa;
    • Fallerini, Chiara;
    • Baldassarri, Margherita;
    • Furini, Simone;
    • Frullanti, Elisa;
    • Mari, Francesca;
    • Andreotti, Giuseppina;
    • Cubellis, Maria Vittoria;
    • Renieri, Alessandra
    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

  • Clinical and molecular characterization of COVID-19 hospitalized patients.

    Published in:
    PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0242534
    By:
    • Benetti, Elisa;
    • Giliberti, Annarita;
    • Emiliozzi, Arianna;
    • Valentino, Floriana;
    • Bergantini, Laura;
    • Fallerini, Chiara;
    • Anedda, Federico;
    • Amitrano, Sara;
    • Conticini, Edoardo;
    • Tita, Rossella;
    • d'Alessandro, Miriana;
    • Fava, Francesca;
    • Marcantonio, Simona;
    • Baldassarri, Margherita;
    • Bruttini, Mirella;
    • Mazzei, Maria Antonietta;
    • Montagnani, Francesca;
    • Mandalà, Marco;
    • Bargagli, Elena;
    • Furini, Simone
    Publication type:
    Article

  • Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

    Published in:
    Brazilian Journal of Psychiatry / Revista Brasileira de Psiquiatria, 2023, v. 45, n. 1, p. 11, doi. 10.47626/1516-4446-2022-2650
    By:
    • Privitera, Flavia;
    • Trusso, Maria A.;
    • Valentino, Floriana;
    • Doddato, Gabriella;
    • Fallerini, Chiara;
    • Brunelli, Giulia;
    • D'Aurizio, Romina;
    • Furini, Simone;
    • Goracci, Arianna;
    • Fagiolini, Andrea;
    • Mari, Francesca;
    • Renieri, Alessandra;
    • Ariani, Francesca
    Publication type:
    Article

  • 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

  • Low‐level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.

    Published in:
    British Journal of Haematology, 2019, v. 184, n. 4, p. 657, doi. 10.1111/bjh.15147
    By:
    • Pinto, Anna Maria;
    • Papa, Filomena T.;
    • Frullanti, Elisa;
    • Meloni, Ilaria;
    • Tita, Rossella;
    • Caselli, Rossella;
    • Fallerini, Chiara;
    • Lopergolo, Diego;
    • Cetta, Francesco;
    • Mencarelli, Maria Antonietta;
    • Bocchia, Monica;
    • Gozzetti, Alessandro;
    • Renieri, Alessandra
    Publication type:
    Article

  • Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 13, p. 3740, doi. 10.3390/jcm11133740
    By:
    • Serio, Viola Bianca;
    • Palmieri, Maria;
    • Loberti, Lorenzo;
    • Granata, Stefania;
    • Fallerini, Chiara;
    • Vaghi, Massimo;
    • Renieri, Alessandra;
    • Pinto, Anna Maria
    Publication type:
    Article

  • Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.

    Published in:
    eLife, 2021, p. 1, doi. 10.7554/eLife.67569
    By:
    • Fallerini, Chiara;
    • Daga, Sergio;
    • Mantovani, Stefania;
    • Benetti, Elisa;
    • Picchiotti, Nicola;
    • Francisci, Daniela;
    • Paciosi, Francesco;
    • Schiaroli, Elisabetta;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Palmieri, Maria;
    • Ludovisi, Serena;
    • Castelli, Francesco;
    • Quiros-Roldan, Eugenia;
    • Vaghi, Massimo;
    • Rusconi, Stefano;
    • Siano, Matteo;
    • Bandini, Maria;
    • Spiga, Ottavia;
    • Capitani, Katia
    Publication type:
    Article

  • Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33293-x
    By:
    • Cupaioli, Francesca Anna;
    • Mosca, Ettore;
    • Magri, Chiara;
    • Gennarelli, Massimo;
    • Moscatelli, Marco;
    • Raggi, Maria Elisabetta;
    • Landini, Martina;
    • Galluccio, Nadia;
    • Villa, Laura;
    • Bonfanti, Arianna;
    • Renieri, Alessandra;
    • Fallerini, Chiara;
    • Minelli, Alessandra;
    • Marabotti, Anna;
    • Milanesi, Luciano;
    • Fasano, Alessio;
    • Mezzelani, Alessandra
    Publication type:
    Article

  • FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32970
    By:
    • Mazel, Benoit;
    • Delanne, Julian;
    • Garde, Aurore;
    • Racine, Caroline;
    • Bruel, Ange‐Line;
    • Duffourd, Yannis;
    • Lopergolo, Diego;
    • Santorelli, Filippo Maria;
    • Marchi, Viviana;
    • Pinto, Anna Maria;
    • Mencarelli, Maria Antonietta;
    • Canitano, Roberto;
    • Valentino, Floriana;
    • Papa, Filomena Tiziana;
    • Fallerini, Chiara;
    • Mari, Francesca;
    • Renieri, Alessandra;
    • Munnich, Arnold;
    • Niclass, Tanguy;
    • Le Guyader, Gwenaël
    Publication type:
    Article

  • SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

    Published in:
    2020
    By:
    • McNeill, Alisdair;
    • Iovino, Emanuela;
    • Mansard, Luke;
    • Vache, Christel;
    • Baux, David;
    • Bedoukian, Emma;
    • Cox, Helen;
    • Dean, John;
    • Goudie, David;
    • Kumar, Ajith;
    • Newbury-Ecob, Ruth;
    • Fallerini, Chiara;
    • Renieri, Alessandra;
    • Lopergolo, Diego;
    • Mari, Francesca;
    • Blanchet, Catherine;
    • Willems, Marjolaine;
    • Roux, Anne-Francoise;
    • Pippucci, Tommaso;
    • Delpire, Eric
    Publication type:
    journal article

  • Urine‐derived podocytes‐lineage cells: A promising tool for precision medicine in Alport Syndrome.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 302, doi. 10.1002/humu.23364
    By:
    • Daga, Sergio;
    • Baldassarri, Margherita;
    • Lo Rizzo, Caterina;
    • Fallerini, Chiara;
    • Imperatore, Valentina;
    • Longo, Ilaria;
    • Frullanti, Elisa;
    • Landucci, Elisa;
    • Massella, Laura;
    • Pecoraro, Carmine;
    • Garosi, Guido;
    • Ariani, Francesca;
    • Mencarelli, Maria Antonietta;
    • Mari, Francesca;
    • Renieri, Alessandra;
    • Pinto, Anna Maria
    Publication type:
    Article

  • Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

    Published in:
    2021
    By:
    • Doddato, Gabriella;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Papa, Filomena Tiziana;
    • Tita, Rossella;
    • Bruno, Lucia Pia;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Benetti, Elisa;
    • Palmieri, Maria;
    • Mencarelli, Maria Antonietta;
    • Fabbiani, Alessandra;
    • Bruttini, Mirella;
    • Orrico, Alfredo;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Lopergolo, Diego;
    • Rizzo, Caterina Lo;
    • Lamacchia, Vittoria;
    • Mannucci, Sara
    Publication type:
    Correction Notice

  • Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.

    Published in:
    Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.649435
    By:
    • Doddato, Gabriella;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Papa, Filomena Tiziana;
    • Tita, Rossella;
    • Bruno, Lucia Pia;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Benetti, Elisa;
    • Palmieri, Maria;
    • Mencarelli, Maria Antonietta;
    • Fabbiani, Alessandra;
    • Bruttini, Mirella;
    • Orrico, Alfredo;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Lopergolo, Diego;
    • Lo Rizzo, Caterina;
    • Lamacchia, Vittoria;
    • Mannucci, Sara
    Publication type:
    Article

  • Clonality Analysis of Immunoglobulin Gene Rearrangement by Next-Generation Sequencing in Endemic Burkitt Lymphoma Suggests Antigen Drive Activation of BCR as Opposed to Sporadic Burkitt Lymphoma.

    Published in:
    2016
    By:
    • Amato, Teresa;
    • Abate, Francesco;
    • Piccaluga, Pierpaolo;
    • Iacono, Michele;
    • Fallerini, Chiara;
    • Renieri, Alessandra;
    • De Falco, Giulia;
    • Ambrosio, Maria Raffaella;
    • Mourmouras, Vaselious;
    • Ogwang, Martin;
    • Calbi, Valeria;
    • Rabadan, Roul;
    • Hummel, Michael;
    • Pileri, Stefano;
    • Leoncini, Lorenzo;
    • Bellan, Cristiana
    Publication type:
    journal article

  • Assessment of haptoglobin alleles in autism spectrum disorders.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64679-w
    By:
    • Cupaioli, Francesca Anna;
    • Mosca, Ettore;
    • Magri, Chiara;
    • Gennarelli, Massimo;
    • Moscatelli, Marco;
    • Raggi, Maria Elisabetta;
    • Landini, Martina;
    • Galluccio, Nadia;
    • Villa, Laura;
    • Bonfanti, Arianna;
    • Renieri, Alessandra;
    • Fallerini, Chiara;
    • Minelli, Alessandra;
    • Marabotti, Anna;
    • Milanesi, Luciano;
    • Fasano, Alessio;
    • Mezzelani, Alessandra
    Publication type:
    Article

  • RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.

    Published in:
    Frontiers in Oncology, 2020, v. 10, p. N.PAG, doi. 10.3389/fonc.2020.01467
    By:
    • Gelli, Elisa;
    • Fallerini, Chiara;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Castiglione, Francesca;
    • Laschi, Lucrezia;
    • Palmieri, Maria;
    • Fabbiani, Alessandra;
    • Tita, Rossella;
    • Mencarelli, Maria Antonietta;
    • Renieri, Alessandra;
    • Ariani, Francesca
    Publication type:
    Article

  • Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1362469
    By:
    • Martelloni, Gabriele;
    • Turchi, Alessio;
    • Fallerini, Chiara;
    • Degl'Innocenti, Andrea;
    • Baldassarri, Margherita;
    • Olmi, Simona;
    • Furini, Simone;
    • Renieri, Alessandra
    Publication type:
    Article

  • Vestibular and audiological findings in the Alport syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2345, doi. 10.1002/ajmg.a.61796
    By:
    • Barozzi, Stefania;
    • Soi, Daniela;
    • Intieri, Elisabetta;
    • Giani, Marisa;
    • Aldè, Mirko;
    • Tonon, Eleonora;
    • Signorini, Lia;
    • Renieri, Alessandra;
    • Fallerini, Chiara;
    • Perin, Paola;
    • Montini, Giovanni;
    • Ambrosetti, Umberto
    Publication type:
    Article

  • Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress.

    Published in:
    International Journal of Molecular Sciences, 2016, v. 17, n. 3, p. 306, doi. 10.3390/ijms17030306
    By:
    • Imperatore, Valentina;
    • Mencarelli, Maria Antonietta;
    • Fallerini, Chiara;
    • Bianciardi, Laura;
    • Ariani, Francesca;
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