A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care

Bron
Genome medicine - ISSN 1756-994X-18:1 (2026) p.
Auteur(s)
    Mathilde Geysens, Erika Souche, Maria Chiara Baroni, Valerie Benoit, Tessi Beyltjens, Wouter Bossuyt, Vincent Bours, Marian Crabbe, Didier Croes, Matthias De Smet, Julie Desir, Koenraad Devriendt, Annelies Dheedene, Boyan Ivanov Dimitrov, Katrien Janssens, Candy Kumps, Aime Lumaka, Bjorn Menten, Marije Meuwissen, Olivier Monestier, Geert Mortier, Catharina Olsen, Leonor Palmeira, Hilde Peeters, Laura Polsler, Nicole Revencu, Dominique Roland, Julie Soblet, Yves Sznajer, Sylvia Taziaux, Hilde Van Esch, Geert Vandeweyer, Elise Vantroys, Catherline Vilain, Elsa Wiame, Kris van den Bogaert, Joris Robert Vermeesch

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

Bron
EMBO molecular medicine - ISSN 1757-4676-18:9 (2026) p. 3474-3494
Auteur(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

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