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Publicacions

  • 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. Nº de cites: 7

    [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. Nº de cites: 219

    [doi:10.1161/CIRCULATIONAHA.120.050065]

  • 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]

  • 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. Nº de cites: 9

    [doi:10.1093/cid/ciab030]

  • 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. Nº de cites: 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. Nº de cites: 2

    [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. Nº de cites: 44

    [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): . Nº de cites: 35

    [doi:10.1161/JAHA.120.018007]

  • Heying R, Albert DC, Voges I, Sendzikaite S, Sarquella-Brugada G, Pluchinotta F, Brzezinska-Rajszys G, Stein JI and Milanesi O.

    Association for European Paediatric and Congenital Cardiology recommendations for basic training in paediatric and congenital cardiology 2020.

    CARDIOLOGY IN THE YOUNG . 30(11): 1572-1587.

    [doi:10.1017/S1047951120003455]

  • Moore JP, Gallotti RG, Shannon KM, Bos JM, Sadeghi E, Strasburger JF, Wakai RT, Horigome H, Clur SA, Hill AC, Shah MJ, Behere S, Sarquella-Brugada G, Czosek R, Etheridge SP, Fischbach P, Kannankeril PJ, Motonaga K, Landstrom AP, Williams M, Patel A, Dagradi F, Tan RB, Stephenson E, Krishna MR, Miyake CY, Lee ME, Sanatani S, Balaji S, Young ML, Siddiqui S, Schwartz PJ, Shivkumar K and Ackerman MJ.

    Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome

    JACC-CLINICAL ELECTROPHYSIOLOGY . 6(12): 1561-1570. Nº de cites: 21

    [doi:10.1016/j.jacep.2020.06.001]