No photo of Laura Polsler

Laura Polsler

 https://orcid.org/0000-0002-1796-2287

  • Laarbeeklaan 101

    1090 Jette

    Belgium

  • Source: Scopus
  • Calculated based on number of publications stored in Pure and citations from Scopus
20082024

Research activity per year

Filter
Article

Search results

  • 2024

    A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements

    Van Der Kelen, A., Keymolen, K., Cools, W., De Vos, A., Pölsler, L., De Vos, M., Blockeel, C., Fernandez-Gallardo, E., De Rycke, M., Berckmoes, V., Verdyck, P., Hes, F. J. & Verpoest, W., Jul 2024, In: Journal of Assisted Reproduction and Genetics. 41, 7, p. 1907-1915 9 p.

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

    Open Access
  • 2023

    Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

    Palmer, E. E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M. H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F. S., Chedrawi, A., Hashem, M. O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B. & 79 others, Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C. S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T. B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L. J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., El Chehadeh, S., Spitz, M-A., Piton, A., Gerard, B., Abi Warde, M-T., Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J. M., Sands, T. T., Wilson, G. N., Silvertooth, E. J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M. H., Ockeloen, C. W., Pfundt, R., Kroft, S. D., Field, M., Laranjeira, F. E. R., Fortuna, A. M., Soares, A. R., Michaud, V., Naudion, S., Golla, S., Weaver, D. D., Bird, L. M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P. M., Blazo, M., Bijlsma, E. K., Rosenfeld, J. A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S. S., Armstrong, R. & Kalscheuer, V. M., Feb 2023, In: Molecular Psychiatry. 28, 2, p. 668-697 30 p.

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

    Open Access
    File
    17 Citations (Scopus)
    24 Downloads (Pure)
  • 2022

    Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

    Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., May 2022, In: European Journal of Human Genetics. 30, 5, p. 611-618 8 p.

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

    Open Access
    4 Citations (Scopus)
  • 2020

    A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

    Pölsler, L., Schatz, U. A., Simma, B., Zschocke, J. & Rudnik-Schöneborn, S., Apr 2020, In: American Journal of Medical Genetics. Part A. 182, 4, p. 730-734 5 p.

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

    Open Access
    15 Citations (Scopus)

  • Monogenic variants in dystonia: an exome-wide sequencing study

    Zech, M., Jech, R., Boesch, S., Škorvánek, M., Weber, S., Wagner, M., Zhao, C., Jochim, A., Necpál, J., Dincer, Y., Vill, K., Distelmaier, F., Stoklosa, M., Krenn, M., Grunwald, S., Bock-Bierbaum, T., Fečíková, A., Havránková, P., Roth, J., Příhodová, I. & 91 others, Adamovičová, M., Ulmanová, O., Bechyně, K., Danhofer, P., Veselý, B., Haň, V., Pavelekova, P., Gdovinová, Z., Mantel, T., Meindl, T., Sitzberger, A., Schröder, S., Blaschek, A., Roser, T., Bonfert, M. V., Haberlandt, E., Plecko, B., Leineweber, B., Berweck, S., Herberhold, T., Langguth, B., Švantnerová, J., Minár, M., Ramos-Rivera, G. A., Wojcik, M. H., Pajusalu, S., Õunap, K., Schatz, U. A., Pölsler, L., Milenkovic, I., Laccone, F., Pilshofer, V., Colombo, R., Patzer, S., Iuso, A., Vera, J., Troncoso, M., Fang, F., Prokisch, H., Wilbert, F., Eckenweiler, M., Graf, E., Westphal, D. S., Riedhammer, K. M., Brunet, T., Alhaddad, B., Berutti, R., Strom, T. M., Hecht, M., Baumann, M., Wolf, M., Telegrafi, A., Person, R. E., Zamora, F. M., Henderson, L. B., Weise, D., Musacchio, T., Volkmann, J., Szuto, A., Becker, J., Cremer, K., Sycha, T., Zimprich, F., Kraus, V., Makowski, C., Gonzalez-Alegre, P., Bardakjian, T. M., Ozelius, L. J., Vetro, A., Guerrini, R., Maier, E., Borggraefe, I., Kuster, A., Wortmann, S. B., Hackenberg, A., Steinfeld, R., Assmann, B., Staufner, C., Opladen, T., Růžička, E., Cohn, R. D., Dyment, D., Chung, W. K., Engels, H., Ceballos-Baumann, A., Ploski, R., Daumke, O., Haslinger, B., Mall, V., Oexle, K. & Winkelmann, J., Nov 2020, In: The Lancet Neurology. 19, 11, p. 908-918 11 p.

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

    Open Access
    File
    141 Citations (Scopus)
    9 Downloads (Pure)
  • 2019

    PEDIA: prioritization of exome data by image analysis

    Hsieh, T-C., Mensah, M. A., Pantel, J. T., Aguilar, D., Bar, O., Bayat, A., Becerra-Solano, L., Bentzen, H. B., Biskup, S., Borisov, O., Braaten, O., Ciaccio, C., Coutelier, M., Cremer, K., Danyel, M., Daschkey, S., Eden, H. D., Devriendt, K., Wilson, S., Douzgou, S. & 74 others, Đukić, D., Ehmke, N., Fauth, C., Fischer-Zirnsak, B., Fleischer, N., Gabriel, H., Graul-Neumann, L., Gripp, K. W., Gurovich, Y., Gusina, A., Haddad, N., Hajjir, N., Hanani, Y., Hertzberg, J., Hoertnagel, K., Howell, J., Ivanovski, I., Kaindl, A., Kamphans, T., Kamphausen, S., Karimov, C., Kathom, H., Keryan, A., Knaus, A., Köhler, S., Kornak, U., Lavrov, A., Leitheiser, M., Lyon, G. J., Mangold, E., Reina, P. M., Carrascal, A. M., Mitter, D., Herrador, L. M., Nadav, G., Nöthen, M., Orrico, A., Ott, C-E., Park, K., Peterlin, B., Pölsler, L., Raas-Rothschild, A., Randolph, L., Revencu, N., Fagerberg, C. R., Robinson, P. N., Rosnev, S., Rudnik, S., Rudolf, G., Schatz, U., Schossig, A., Schubach, M., Shanoon, O., Sheridan, E., Smirin-Yosef, P., Spielmann, M., Suk, E-K., Sznajer, Y., Thiel, C. T., Thiel, G., Verloes, A., Vrecar, I., Wahl, D., Weber, I., Winter, K., Wiśniewska, M., Wollnik, B., Yeung, M. W., Zhao, M., Zhu, N., Zschocke, J., Mundlos, S., Horn, D. & Krawitz, P. M., Dec 2019, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 21, 12, p. 2807-2814 8 p.

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

    Open Access
    53 Citations (Scopus)
  • 2018

    Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome

    Maass, P. G., Weise, A., Rittscher, K., Lichtenwald, J., Barutcu, A. R., Liehr, T., Aydin, A., Wefeld-Neuenfeld, Y., Pölsler, L., Tinschert, S., Rinn, J. L., Luft, F. C. & Bähring, S., 1 Aug 2018, In: EMBO Journal. 37, 15, 16 p., e96257.

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

    Open Access
    13 Citations (Scopus)
  • 2016

    High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

    Pölsler, L., Fiegl, H., Wimmer, K., Oberaigner, W., Amberger, A., Traunfellner, P., Morscher, R. J., Weber, I., Fauth, C., Wernstedt, A., Sperner-Unterweger, B., Oberguggenberger, A., Hubalek, M., Marth, C. & Zschocke, J., Feb 2016, In: European Journal of Human Genetics. 24, 2, p. 258-262 5 p.

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

    3 Citations (Scopus)
Your message has successfully been sent.
Your message was not sent due to an error.