Medical Genetics

Publications

Multicentric longitudinal performance monitoring of different prenatal cell-free DNA screening technologies in Belgium

Source
Prenatal diagnosis - ISSN 0197-3851- (2026) p.
Author(s)
    Armelle Duquenne, Nathalie Brison, Ilse Parijs, Angelica Pagliazzi, Machteld Baetens, Bettina Blaumeiser, Marie Bruneau, Saskia Bulk, Bert Callewaert, Sandra Coppens, Michelle Deberg, Anne De Leener, Marjan De Rademaker, Julie Desir, Koenraad Devriendt, Annelies Fieuw, Jean-Stephane Gatot, Mauricette Jamar, Sandra Janssens, Lore Lannoo, Axel Marichal, Bjorn Menten, Colombine Meunier, Bruno Pichon, Sonia Rombout, Ileen Slegers, Yves Sznajer, Olivier Vanakker, Kim Van Berkel, Leen Vancoillie, Ann Van Den Bogaert, Isabelle Vandernoot, Kris Van Den Bogaert, Joris R. Vermeesch, Katrien Janssens

Spontaneous spinal CSF leaks : a rare variant exome sequencing study and functional analysis

Source
The lancet neurology - ISSN 1474-4422-25:7 (2026) p. 664-672
Author(s)
    Cassie A. Parks, Mukti Singh, Elizabeth Wohler, Renan Martin, Silke Peeters, Emily E. Juzwiak, Xinyi Sun, Bart Loeys, Nara Sobreira, Clair Baldock, Wouter I. Schievink, Harry C. Dietz

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders

Source
European journal of human genetics - ISSN 1018-4813-34:8 (2026) p. 1070-1080
Author(s)
    Matthias De Wachter, Mathijs van der Lei, Amber Decleve, Kevin De Man, Ellen Elinck, An-Sofie Schoonjans, Evan Gouy, Louis Januel, Pauline Monin, Audrey Labalme, Amelle Shillington, Himanshu Goel, Juliet P. Taylor, Katherine Neas, David A. Koolen, Francois Lecoquierre, Alice Goldenberg, Theresa Brunet, Melanie Brugger, Minjie Luo, Magdalena Krygier, Maria Mazurkiewicz-Beldzinska, Manon Degoutin, Claire Beneteau, Cyril Goizet, David D. Weaver, Emily G. Farrow, Angela Lee, Randi N. Gadea, Berten Ceulemans, Peter A.M. de Witte, Danielle Copmans, Anna Jansen, Frank Kooy

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease

Source
EMBO molecular medicine - ISSN 1757-4676- (2026) p.
Author(s)
    Maya M. Polovitskaya, Tinatin Tkemaladze, Lotte Jensen, Sumanta Kar, Rosa Planells-Cases, Emanuele Agolini, Pankaj B. Agrawal, Paolo Alfieri, Tahsin Stefan Barakat, Miriam Bertrand, Pamela Bowman, Alice S. Brooks, Ange-Line Bruel, Sara Cabet, Karolina Chwialkowska, Giovanna Stefania Colafati, Julian Delanne, Laurence Faivre, Cristina Felton, Ute Grasshoff, Anne-Marie Guerrot, Tobias B. Haack, Claudia Haase, Ashley R. Helseth, Katrien Janssens, Amjad Khan, Margarete Koch-Hogrebe, Joshua Mandelberg, Elisabeth Mangold, Elene Melikidze, Marije Meuwissen, Ieva Micule, Brittany Noble, Konrad Platzer, Dmitrijs Rots, Catherin Sarret, Ariane Schmetz, Amelle Shillington, Frederic Tran-Mau-Them, Dagmar Wieczorek, Gaetan Lesca, Allan Bayat, Thomas J. Jentsch