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19992020

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ASSOCIATE PROFESSOR | Neurology ASSOCIATE PROFESSOR | Pediatrics

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  • Fatal cerebral infarct in a child with COVID-19

    Kihira, S., Morgenstern, P. F., Raynes, H., Naidich, T. P. & Belani, P., 1 Sep 2020, In: Pediatric Radiology. 50, 10, p. 1479-1480 2 p.

    Research output: Contribution to journalLetterpeer-review

    Open Access
    13 Scopus citations
  • Epilepsy surgery in patients with autism

    Kokoszka, M. A., McGoldrick, P. E., La Vega-Talbott, M., Raynes, H., Palmese, C. A., Wolf, S. M., Harden, C. L. & Ghatan, S., Feb 2017, In: Journal of Neurosurgery: Pediatrics. 19, 2, p. 196-207 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    13 Scopus citations
  • Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    International JSRD Study Group, 1 Oct 2013, In: European Journal of Human Genetics. 21, 10, p. 1074-1078 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    47 Scopus citations
  • CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

    Lee, J. E., Silhavy, J. L., Zaki, M. S., Schroth, J., Bielas, S. L., Marsh, S. E., Olvera, J., Brancati, F., Iannicelli, M., Ikegami, K., Schlossman, A. M., Merriman, B., Attié-Bitach, T., Logan, C. V., Glass, I. A., Cluckey, A., Louie, C. M., Lee, J. H., Raynes, H. R., Rapin, I., & 10 othersCastroviejo, I. P., Setou, M., Barbot, C., Boltshauser, E., Nelson, S. F., Hildebrandt, F., Johnson, C. A., Doherty, D. A., Valente, E. M. & Gleeson, J. G., Feb 2012, In: Nature Genetics. 44, 2, p. 193-199 7 p.

    Research output: Contribution to journalArticlepeer-review

    127 Scopus citations
  • Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B., & 205 othersMajore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., May 2010, In: Human Mutation. 31, 5, p. E1319-E1331

    Research output: Contribution to journalArticlepeer-review

    Open Access
    68 Scopus citations