Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

Source
The American journal of human genetics - ISSN 0002-9297-113:9 (2026) p. 1946-1971
Author(s)
    Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak A. Alghamdi, Naif A. M. Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogne, Ana S. A. Cohen, Carles Diego de Boguna, Evan E. Eichler, Elizabeth C. Engle, Jill A. Fahrner, Laurence Faivre, Melanie Fradin, Nico Fuhrmann, Christine W. Gao, Gunjan Garg, Dagmar Grecmalova, Mina Grippa, Jacqueline R. Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Meral Aktas Koptagel, Farah A. Ladha, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Andreina Minicucci, Emily Neuhaus, Mathilde Nizon, Lenka Noskova, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H. Robin, Carey Ronspies, Jasmin Roohi, Hans Tomas Bjornsson

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 1757-4676-18:9 (2026) p. 3474-3494
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)