Marije Meuwissen hoofddocent

Publicaties Marije Meuwissen

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

Bron
Molecular psychiatry - ISSN 1359-4184-28 (2023) p. 668-697
Auteur(s)
    Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogne, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stephanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Vera M. Kalscheuer

Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases : a proof of concept study

Bron
Pediatric rheumatology - ISSN 1546-0096-20:1 (2022) p. 1-10
Auteur(s)

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder

Bron
Genetics in medicine - ISSN 1530-0366-24:7 (2022) p. 1583-1591
Auteur(s)
    Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frédéric Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte I De Bie, Sjoerd J B Holwerda, Mary Alice Abbot, Stylianos E Antonarakis, Bart Loeys

Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutieres syndrome with severe end-organ involvement

Bron
Journal of clinical immunology - ISSN 0271-9142-42 (2022) p. 962-974
Auteur(s)
    Leslie Naesens, Josephine Nemegeer, Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo, Benson Ogunjimi, Dimitri Hemelsoet, Levi Hoste, Lisa Roels, Marieke De Bruyne, Elfride De Baere, Jo Van Dorpe, Amélie Dendooven, Anne Sieben, Gillian, I Rice, Tessa Kerre, Rudi Beyaert, Carolina Uggenti, Yanick J. Crow, Simon J. Tavernier, Jonathan Maelfait, Filomeen Haerynck

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Bron
Brain - ISSN 0006-8950-145:9 (2022) p. 2991-3009
Auteur(s)
    Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D. Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthová, Marketa Vlckova, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P.Y. Billie Au, Jong M. Rho, Alice W. Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E. Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S. Verhoeven, Bert van der Zwaag, Aster V.E. Harder, Eva Brilstra, Manuela Pendziwiat, An-Sofie Schoonjans, Marije Meuwissen, Rikke S. Møller