Works by Leonardi, Emanuela

Results: 27
    1

    Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

    Published in:
    JAMA Network Open, 2022, v. 5, n. 1, p. e2141911, doi. 10.1001/jamanetworkopen.2021.41911
    By:
    • Godler, David E.;
    • Ling, Ling;
    • Gamage, Dinusha;
    • Baker, Emma K.;
    • Bui, Minh;
    • Field, Michael J.;
    • Rogers, Carolyn;
    • Butler, Merlin G.;
    • Murgia, Alessandra;
    • Leonardi, Emanuela;
    • Polli, Roberta;
    • Schwartz, Charles E.;
    • Skinner, Cindy D.;
    • Alliende, Angelica M.;
    • Santa Maria, Lorena;
    • Pitt, James;
    • Greaves, Ronda;
    • Francis, David;
    • Oertel, Ralph;
    • Wang, Min
    Publication type:
    Article
    2

    Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
    By:
    • Bello, Luca;
    • Melacini, Paola;
    • Pezzani, Raffaele;
    • D'Amico, Adele;
    • Piva, Luisa;
    • Leonardi, Emanuela;
    • Torella, Annalaura;
    • Soraru, Gianni;
    • Palmieri, Arianna;
    • Smaniotto, Gessica;
    • Gavassini, Bruno F;
    • Vianello, Andrea;
    • Nigro, Vincenzo;
    • Bertini, Enrico;
    • Angelini, Corrado;
    • Tosatto, Silvio C E;
    • Pegoraro, Elena
    Publication type:
    Article
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    Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1792, doi. 10.3390/ijms22041792
    By:
    • Beilin, Arkadii K.;
    • Evtushenko, Nadezhda A.;
    • Lukyanov, Daniil K.;
    • Murashkin, Nikolay N.;
    • Ambarchian, Eduard T.;
    • Pushkov, Alexander A.;
    • Savostyanov, Kirill V.;
    • Fisenko, Andrey P.;
    • Rogovaya, Olga S.;
    • Vasiliev, Andrey V.;
    • Vorotelyak, Ekaterina A.;
    • Gurskaya, Nadya G.;
    • Leonardi, Emanuela;
    • Minervini, Giovanni;
    • Savojardo, Castrense
    Publication type:
    Article
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    Connexin 26 35delG does not represent a mutational hotspot.

    Published in:
    Human Genetics, 2003, v. 113, n. 1, p. 18, doi. 10.1007/s00439-003-0944-2
    By:
    • Rothrock, Caryn R.;
    • Murgia, Alessandra;
    • Sartorato, Edi L.;
    • Leonardi, Emanuela;
    • Wei, Sainan;
    • Lebeis, Sarah L.;
    • Yu, Laura E.;
    • Elfenbein, Jill L.;
    • Fisher, Rachel A.;
    • Friderici, Karen H.
    Publication type:
    Article
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    DisProt 7.0: a major update of the database of disordered proteins.

    Published in:
    Nucleic Acids Research, 2017, v. 45, n. D1, p. D219, doi. 10.1093/nar/gkw1056
    By:
    • Piovesan, Damiano;
    • Tabaro, Francesco;
    • Mičcetić, Ivan;
    • Quaglia, Federica;
    • Oldfield, Christopher J.;
    • Aspromonte, Maria Cristina;
    • Davey, Norman E.;
    • Davidović, Radoslav;
    • Gasparini, Alessandra;
    • Hatos, András;
    • Kalmar, Lajos;
    • Leonardi, Emanuela;
    • Lazar, Tamas;
    • Macedo-Ribeiro, Sandra;
    • Macossay-Castillo, Mauricio;
    • Minervini, Giovanni;
    • Murvai, Nikoletta;
    • Pujols, Jordi;
    • Roche, Daniel B.;
    • Salladini, Edoardo
    Publication type:
    Article
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    Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants.

    Published in:
    Human Mutation, 2019, v. 40, n. 9, p. 1530, doi. 10.1002/humu.23868
    By:
    • Kasak, Laura;
    • Bakolitsa, Constantina;
    • Hu, Zhiqiang;
    • Yu, Changhua;
    • Rine, Jasper;
    • Dimster‐Denk, Dago F.;
    • Pandey, Gaurav;
    • Baets, Greet;
    • Bromberg, Yana;
    • Cao, Chen;
    • Capriotti, Emidio;
    • Casadio, Rita;
    • Durme, Joost;
    • Giollo, Manuel;
    • Karchin, Rachel;
    • Katsonis, Panagiotis;
    • Leonardi, Emanuela;
    • Lichtarge, Olivier;
    • Martelli, Pier Luigi;
    • Masica, David
    Publication type:
    Article
    24

    Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

    Published in:
    Human Mutation, 2017, v. 38, n. 9, p. 1042, doi. 10.1002/humu.23235
    By:
    • Carraro, Marco;
    • Minervini, Giovanni;
    • Giollo, Manuel;
    • Bromberg, Yana;
    • Capriotti, Emidio;
    • Casadio, Rita;
    • Dunbrack, Roland;
    • Elefanti, Lisa;
    • Fariselli, Pietro;
    • Ferrari, Carlo;
    • Gough, Julian;
    • Katsonis, Panagiotis;
    • Leonardi, Emanuela;
    • Lichtarge, Olivier;
    • Menin, Chiara;
    • Martelli, Pier Luigi;
    • Niroula, Abhishek;
    • Pal, Lipika R.;
    • Repo, Susanna;
    • Scaini, Maria Chiara
    Publication type:
    Article
    25

    Lessons from the CAGI-4 Hopkins clinical panel challenge.

    Published in:
    Human Mutation, 2017, v. 38, n. 9, p. 1155, doi. 10.1002/humu.23225
    By:
    • Chandonia, John‐Marc;
    • Adhikari, Aashish;
    • Carraro, Marco;
    • Chhibber, Aparna;
    • Cutting, Garry R.;
    • Fu, Yao;
    • Gasparini, Alessandra;
    • Jones, David T.;
    • Kramer, Andreas;
    • Kundu, Kunal;
    • Lam, Hugo Y. K.;
    • Leonardi, Emanuela;
    • Moult, John;
    • Pal, Lipika R.;
    • Searls, David B.;
    • Shah, Sohela;
    • Sunyaev, Shamil;
    • Tosatto, Silvio C. E.;
    • Yin, Yizhou;
    • Buckley, Bethany A.
    Publication type:
    Article
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