Ernest Turro

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Ernest Turro

PhD

Calculated based on number of publications stored in Pure and citations from Scopus
20072024

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SENIOR FACULTY | Genetics and Genomic Sciences

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  • 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

    2 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

  • 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
    5 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

    Open Access

  • Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH

    Banerjee, M., Rowley, J. W., Stubben, C. J., Tolley, N. D., Freson, K., Nelson, B., Nagy, B., Fejes, Z., Blair, A. M., Turro, E., Gresele, P., Taranta, G. C., Bury, L., Falcinelli, E., Lordkipanidzé, M., Alessi, M. C., Johnson, A. D., Bakchoul, T., Ramstrom, S. & Frontini, M. & 4 others, Camera, M., Brambilla, M., Campbell, R. A. & Rondina, M. T., Oct 2024, In: Journal of Thrombosis and Haemostasis. 22, 10, p. 2922-2934 13 p.

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

    Open Access
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