Research

Cardiovascular Diseases and Child Development

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Publications

  • Jordà P, Toro R, Diez C, Salazar-Mendiguchía J, Fernandez-Falgueras A, Perez-Serra A, Coll M, Puigmulé M, Arbelo E, García-Álvarez A, Sarquella-Brugada G, César-Díaz S, Tiron C, Iglesias A, Brugada J, Brugada R and Campuzano O.

    Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

    Journal of Personalized Medicine . 11(2): 130. Number of citations: 5

    [doi:10.3390/jpm11020130]

  • Bautista-Rodriguez C, Sanchez deToledo J, Clark BC, Herberg J, Bajolle F, Randanne PC, Salas-Mera D, Foldvari S, Chowdhury D, Munoz R, Bianco F, Singh Y, Levin M, Bonnet D and Fraisse A.

    Multisystem Inflammatory Syndrome in Children: An International Survey

    Pediatrics . 147(2): . Number of citations: 87

    [doi:10.1542/peds.2020-024554]

  • Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.

    The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

    PEDIATRIC NEUROLOGY . 115: 50-65. Number of citations: 12

    [doi:10.1016/j.pediatrneurol.2020.11.002]

  • Valverde I, Singh Y, Sanchez deToledo J, Theocharis P, Chikermane A, Di Filippo S, Kuciñska B, Mannarino S, Tamariz-Martel A, Gutierrez-Larraya F, Soda G, Vandekerckhove K, Gonzalez-Barlatay F, McMahon CJ, Marcora S, Napoleone CP, Duong P, Tuo G, Deri A, Nepali G, Ilina M, Ciliberti P, Miller O and AEPC COVID-19 Rapid Response Team*.

    Acute Cardiovascular Manifestations in 286 Children With Multisystem Inflammatory Syndrome Associated With COVID-19 Infection in Europe

    Circulation . 143(1): 21-32. Number of citations: 240

    [doi:10.1161/CIRCULATIONAHA.120.050065]

  • García-Otero L, LÓpez M, GoncÉ A, Fortuny-Guasch C, Salazar L, Valenzuela-Alcaraz BI, Guirado L, César-Díaz S, Gratacós E and Fàtima Crispi Brillas.

    Cardiac Remodeling and Hypertension in HIV-Uninfected Infants Exposed in utero to Antiretroviral Therapy

    CLINICAL INFECTIOUS DISEASES . 73(4): 586-593. Number of citations: 10

    [doi:10.1093/cid/ciab030]

  • Moscoso BA, Merchan F, Zuccarino F, Congiu S, Mayol J and Caffarena-Calvar JM.

    Neonatal repair of Truncus arteriosus communis associated with interrupted aortic arch

    Cirugia Cardiovascular . 28(1): 53-56.

    [doi:10.1016/j.circv.2020.11.002]

  • Niaz T, Hope K, Fremed M, Misra N, Altman C, Glickstein J, Sanchez deToledo J, Fraisse A, Miller J, Snyder C, Johnson JN and Chowdhury D.

    Role of a Pediatric Cardiologist in the COVID-19 Pandemic

    PEDIATRIC CARDIOLOGY . 42(1): 19-35. Number of citations: 19

    [doi:10.1007/s00246-020-02476-y]

  • Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.

    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Number of citations: 3

    [doi:10.1002/ajmg.a.61939]

  • Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR and Nantes Referral Center for inherited cardiac arrhythmia.

    Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

    GENETICS IN MEDICINE . 23(1): 47-58. Number of citations: 55

    [doi:10.1038/s41436-020-00946-5]

  • Clark BC, Sanchez deToledo J, Bautista Rodríguez C, Choueiter N, Lara D, Kang H, Mohsin S, Fraisse A, César-Díaz S, Sattar Shaikh A, Escobar-Diaz MC, Hsu DT, Randanne PC, Aslam N, Kleinmahon J, Lamour JM, Johnson JN, Sarquella-Brugada G and Chowdhury D.

    Cardiac Abnormalities Seen in Pediatric Patients During the SARS-CoV2 Pandemic: An International Experience

    JOURNAL OF THE AMERICAN HEART ASSOCIATION . 9(21): . Number of citations: 41

    [doi:10.1161/JAHA.120.018007]