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Anwar Baban

20042019

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Research Output

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

Alesi, V., Loddo, S., Calì, F., Orlando, V., Genovese, S., Ferretti, D., Calacci, C., Calvieri, G., Falasca, R., Ulgheri, L., Drago, F., Dallapiccola, B., Baban, A. & Novelli, A., May 30 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journal › Article

    • Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

    van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., López-González, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Jan 29 2019, In : Genetics in Medicine.

    Research output: Contribution to journal › Article

    • Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis

    Baban, A., Adorisio, R., Corica, B., Rizzo, C., Calì, F., Semeraro, M., Taurisano, R., Magliozzi, M., Carrozzo, R., Parisi, F., Dallapiccola, B., Vaz, F. M., Drago, F. & Dionisi-Vici, C., 2019, In : American journal of medical genetics. Part A. 182, 1, p. 64-70 7 p.

    Research output: Contribution to journal › Article

    • Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

    Norrish, G., Ding, T., Field, E., Ziólkowska, L., Olivotto, I., Limongelli, G., Anastasakis, A., Weintraub, R., Biagini, E., Ragni, L., Prendiville, T., Duignan, S., McLeod, K., Ilina, M., Fernández, A., Bökenkamp, R., Baban, A., Kubuš, P., Daubeney, P. E. F., Sarquella-Brugada, G. & 29 others, Cesar, S., Marrone, C., Bhole, V., Medrano, C., Uzun, O., Brown, E., Gran, F., Castro, F. J., Stuart, G., Vignati, G., Barriales-Villa, R., Guereta, L. G., Adwani, S., Linter, K., Bharucha, T., Garcia-Pavia, P., Rasmussen, T. B., Calcagnino, M. M., Jones, C. B., De Wilde, H., Toru-Kubo, J., Felice, T., Mogensen, J., Mathur, S., Reinhardt, Z., O'Mahony, C., Elliott, P. M., Omar, R. Z. & Kaski, J. P., Aug 14 2019, In : JAMA Cardiology.

    Research output: Contribution to journal › Article

    • Heart rate reduction strategy using ivabradine in end-stage Duchenne cardiomyopathy

    Adorisio, R., Calvieri, C., Cantarutti, N., D'Amico, A., Catteruccia, M., Bertini, E., Baban, A., Filippelli, S., Perri, G., Amodeo, A. & Drago, F., Apr 1 2019, In : International Journal of Cardiology. 280, p. 99-103 5 p.

    Research output: Contribution to journal › Article