Ernest Turro

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Ernest Turro

PhD

Calculated based on number of publications stored in Pure and citations from Scopus
20072025

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SENIOR FACULTY | Genetics and Genomic Sciences

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  • Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

    Greene, D., De Wispelaere, K., Lees, J., Codina-Solà, M., Jensson, B. O., Hales, E., Katrinecz, A., Nieto Molina, E., Pascoal, S., Pfundt, R., Schot, R., Sevilla Porras, M., Sleutels, F., Valenzuela, I., Wijngaard, R., Arroyo Carrera, I., Atton, G., Casas-Alba, D., Donnelly, D. & Duat Rodríguez, A. & 32 others, Fernández Garoz, B., Foulds, N., García-Navas Núñez, D., González Alguacil, E., Jarvis, J., Kant, S. G., Madrigal Bajo, I., Martinez-Monseny, A. F., McKee, S., Ortiz Cabrera, N. V., Rodríguez-Revenga Bodi, L., Sariego Jamardo, A., Stefansson, K., Sulem, P., Suri, M., Van Karnebeek, C., Vasudevan, P., Vega Pajares, A. I., Carracedo, Á., Engelen, M., Lapunzina, P., Morgan, N. P., Morte, B., Rump, P., Stirrups, K., Tizzano, E. F., Barakat, T. S., O’Donoghue, M., Pérez-Jurado, L. A., Freson, K., Mumford, A. D. & Turro, E., Jun 2025, In: Nature Genetics. 57, 6, p. 1367-1373 7 p.

    Research output: Contribution to journal › Letter › peer-review

    5 Scopus citations

  • A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease

    Richter, F., Rutherford, K. D., Cooke, A. J., Meshkati, M., Eddy-Abrams, V., Greene, D., Kosowsky, J., Park, Y., Aggarwal, S., Burke, R. J., Chang, W., Connors, J., Giannone, P. J., Hays, T., Khattar, D., Polak, M., Senaldi, L., Smith-Raska, M., Sridhar, S. & Steiner, L. & 5 others, Swanson, J. R., Tauber, K. A., Barbosa, M., Guttmann, K. F. & Turro, E., Jun 2024, In: American Journal of Kidney Diseases. 83, 6, p. 829-833 5 p.

    Research output: Contribution to journal › Article › peer-review

    4 Scopus citations

  • Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

    Accogli, A., Park, Y. N., Lenk, G. M., Severino, M., Scala, M., Denecke, J., Hempel, M., Lessel, D., Kortüm, F., Salpietro, V., de Marco, P., Guerrisi, S., Torella, A., Nigro, V., Srour, M., Turro, E., Labarque, V., Freson, K., Piatelli, G. & Capra, V. & 2 others, Kitzman, J. O. & Meisler, M. H., May 2024, In: Genetics in Medicine. 26, 5, 101097.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    4 Scopus citations

  • Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

    Greene, D., Thys, C., Berry, I. R., Jarvis, J., Ortibus, E., Mumford, A. D., Freson, K. & Turro, E., Aug 2024, In: Nature Medicine. 30, 8, p. 2165-2169 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    40 Scopus citations

  • Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Schmidt, A., Danyel, M., Grundmann, K., Brunet, T., Klinkhammer, H., Hsieh, T. C., Engels, H., Peters, S., Knaus, A., Moosa, S., Averdunk, L., Boschann, F., Sczakiel, H. L., Schwartzmann, S., Mensah, M. A., Pantel, J. T., Holtgrewe, M., Bösch, A., Weiß, C. & Weinhold, N. & 152 others, Suter, A. A., Stoltenburg, C., Neugebauer, J., Kallinich, T., Kaindl, A. M., Holzhauer, S., Bührer, C., Bufler, P., Kornak, U., Ott, C. E., Schülke, M., Nguyen, H. H. P., Hoffjan, S., Grasemann, C., Rothoeft, T., Brinkmann, F., Matar, N., Sivalingam, S., Perne, C., Mangold, E., Kreiss, M., Cremer, K., Betz, R. C., Mücke, M., Grigull, L., Klockgether, T., Spier, I., Heimbach, A., Bender, T., Brand, F., Stieber, C., Morawiec, A. M., Karakostas, P., Schäfer, V. S., Bernsen, S., Weydt, P., Castro-Gomez, S., Aziz, A., Grobe-Einsler, M., Kimmich, O., Kobeleva, X., Önder, D., Lesmann, H., Kumar, S., Tacik, P., Basin, M. A., Incardona, P., Lee-Kirsch, M. A., Berner, R., Schuetz, C., Körholz, J., Kretschmer, T., Di Donato, N., Schröck, E., Heinen, A., Reuner, U., Hanßke, A. M., Kaiser, F. J., Manka, E., Munteanu, M., Kuechler, A., Cordula, K., Hirtz, R., Schlapakow, E., Schlein, C., Lisfeld, J., Kubisch, C., Herget, T., Hempel, M., Weiler-Normann, C., Ullrich, K., Schramm, C., Rudolph, C., Rillig, F., Groffmann, M., Muntau, A., Tibelius, A., Schwaibold, E. M. C., Schaaf, C. P., Zawada, M., Kaufmann, L., Hinderhofer, K., Okun, P. M., Kotzaeridou, U., Hoffmann, G. F., Choukair, D., Bettendorf, M., Spielmann, M., Ripke, A., Pauly, M., Münchau, A., Lohmann, K., Hüning, I., Hanker, B., Bäumer, T., Herzog, R., Hellenbroich, Y., Westphal, D. S., Strom, T., Kovacs, R., Riedhammer, K. M., Mayerhanser, K., Graf, E., Brugger, M., Hoefele, J., Oexle, K., Mirza-Schreiber, N., Berutti, R., Schatz, U., Krenn, M., Makowski, C., Weigand, H., Schröder, S., Rohlfs, M., Vill, K., Hauck, F., Borggraefe, I., Müller-Felber, W., Kurth, I., Elbracht, M., Knopp, C., Begemann, M., Kraft, F., Lemke, J. R., Hentschel, J., Platzer, K., Strehlow, V., Abou Jamra, R., Kehrer, M., Demidov, G., Beck-Wödl, S., Graessner, H., Sturm, M., Zeltner, L., Schöls, L. J., Magg, J., Bevot, A., Kehrer, C., Kaiser, N., Turro, E., Horn, D., Grüters-Kieslich, A., Klein, C., Mundlos, S., Nöthen, M., Riess, O., Meitinger, T., Krude, H., Krawitz, P. M., Haack, T., Ehmke, N. & Wagner, M., Aug 2024, In: Nature Genetics. 56, 8, p. 1644-1653 10 p.

    Research output: Contribution to journal › Article › peer-review

    18 Scopus citations
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