Research output per year
Research output per year
Personal profile
Expertise
Top Graduate of the 2019 Examination for the European Certificate in Medical Genetics and Genomics (ECMGG), organized by UEMS-Section Medical Genetics (UEMS-SMG) in collaboration with both ESHG and the Branch of Medical Genetics and Genomics of EBMG, at the ESHG 2019 conference in Gothenburg
External positions
Member, Belgian Professional Organization for Clinical Geneticists
Jun 2021 → …Secretary of the Examination Executive Committee, UEMS-SMG
Sep 2019 → …Member of the ECMGG Examination Group, UEMS-SMG
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Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
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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, , Feb 2023, In: Molecular Psychiatry. 28, 2, p. 668-697 30 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Immunomodulatory therapy helps patient with biallelic FLG variants feel less itchy
Uyttebroeck, S., Reynaert, V., Gheldof, A., Poelsler, L., Keymolen, K., Hes, F. J. & Van de Voorde, S. R., 17 Mar 2023, (Unpublished).Research output: Unpublished contribution to conference › Poster
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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
3 Citations (Scopus) -
Specialist Medical Genetics Training Requirements Across Europe
Anderson, F., Moog, U., Turnpenny, P. D., Ramos, F. J., Tobias, E. S., Poelsler, L., Arens, Y. & Berg, J., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 568-568Research output: Contribution to journal › Meeting abstract (Journal)
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A novel KCNK9 missense variant outside the classic p.Gly236 substitution causes Birk Barel syndrome
Uyttebroeck, S., Wassenberg, T., Michotte, A., Cooreman, R., Keymolen, K., Hes, F. J. & Poelsler, L., 17 Sep 2021.Research output: Unpublished contribution to conference › Poster
Prizes
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Science Award of the ÖGH (Austrian Society of Human Genetics)
Polsler, Laura (Recipient), 30 Sep 2016
Prize: Prize (including medals and awards)
Activities
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Autumn Meeting of the Belgian Society of Pediatric Neurology
Sophie Uyttebroeck (Participant) & Laura Polsler (Participant)
21 Oct 2022Activity: Participating in or organising an event › Participation in conference
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40 years of Medical Genetics at UZ Brussel
Thomy de Ravel (Participant), Kim Van Berkel (Participant), Laura Polsler (Participant), Mary-Louise Bonduelle (Participant), Sonia Van Dooren (Participant), Toon Janssen (Participant), Elia Fernandez Gallardo (Participant) & Veerle Berckmoes (Participant)
1 Oct 2022Activity: Participating in or organising an event › Participation in conference
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European Human Genetics Conference 2022
Veronik Hutse (Participant), Frederik Jan Hes (Participant), Ileen Slegers (Participant), Thomy de Ravel (Participant), Elise Vantroys (Participant) & Laura Polsler (Participant)
10 Jun 2022 → 14 Jun 2022Activity: Participating in or organising an event › Participation in conference
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ECMGG Workshop Lodz 03/2022
Laura Polsler (Organiser)
23 Mar 2022 → 25 Mar 2022Activity: Participating in or organising an event › Participating in or organizing an event at an external academic organisation
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ECMGG SQA (Event)
Laura Polsler (Host)
17 Sep 2021Activity: Membership › Work on academic committees and working groups