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

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

RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders : a systematic review

Source
Genetics in medicine - ISSN 1098-3600-28:4 (2026) p. 1-12
Author(s)