PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Valérie Cormier-Daire, Raissa Relator, Sourav Ghosh, Jean-Marc Strub, Christine Schaeffer-Reiss, Carlo Marcelis, David A Koolen, Rolph Pfundt, Elke de Boer, Lisenka Elm Vissers, Thatjana Gardeitchik, Lonneke Am Aarts, Tuula Rinne, Paulien A Terhal, Nienke E Verbeek, Linda C Zuurbier, Astrid S Plomp, Marja W Wessels, Stella A de Man, Arjan Bouman, Lynne M Bird, Reem Saadeh-Haddad, Maria J Guillen Sacoto, Richard Person, Catherine Gooch, Anna Ce Hurst, Michelle L Thompson, Susan M Hiatt, Rebecca O Littlejohn, Elizabeth R Roeder, Mari Mori, Scott Hickey, Jesse M Hunter, Kristy Lee, Khaled Osman, Rana Halloun, Ruxandra Bachmann-Gagescu, Anita Rauch, Dagmar Wieczorek, Konrad Platzer, Johannes Luppe, Laurence Duplomb-Jego, Fatima El It, Yannis Duffourd, Frédéric Tran Mau-Them, Celine Huber, Christopher T Gordon, Fulya Taylan, Riikka E Mäkitie, Alice Costantini, Helena Valta, Stephen Robertson, Gemma Poke, Michel Francoise, Andrea Ciolfi, Marco Tartaglia, Nina Ekhilevitch, Rinat Zaid, Michael A Levy, Jennifer Kerkhof, Haley McConkey, Julian Delanne, Martin Chevarin, Valentin Vautrot, Valentin Bourgeois, Sylvie Nguyen, Nathalie Marle, Patrick Callier, Hana Safraou, Angela Morgan, David J Amor, Michael Hildebrand, David Coman, Marion Aubert Mucca, Julien Thevenon, Fanny Laffargue, Frédéric Bilan, Céline Pebrel-Richard, Grace Yoon, Michelle M Axford, Luis A Pérez-Jurado, Marta Sevilla-Porras, Douglas Black, Christophe Philippe, Bekim Sadikovic, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Michela Ori, Quentin Thomas, Antonio Vitobello
Journal of Clinical Investigation, 2025, vol. 135
HCN2-Associated Neurodevelopmental Disorders
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell-Luria, Grace E VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H Seaver, Jennifer A Sullivan, Vandana Shashi, Fowzan S Alkuraya, Alexis F Poss, J Edward Spence, Rhonda E Schnur, Ian C Forster, Chaseley E Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E Verbeek, Koen L Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A Reid, Katherine B Howell, Alban Ziegler, Christian Legros
Annals of Neurology, 2025, vol. 98, p.573-589
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures
Christopher J. Record, Antoinette O'Connor, Nienke E. Verbeek, Wouter van Rheenen, Eleni Zamba Papanicolaou, Stojan Peric, Peter C. Ligthart, Mariola Skorupinska, Ellen van Binsbergen, Philippe M. Campeau, Vukan Ivanovic, Brian Hennigan, John C. McHugh, Julian C. Blake, Yoshiko Murakami, Matilde Laura, Sinéad M. Murphy, Mary M. Reilly
Annals of Neurology, 2024, vol. 97, p.388-396
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Kathleen Rooney, Liselot van der Laan, Slavica Trajkova, Sadegheh Haghshenas, Raissa Relator, Peter Lauffer, Niels Vos, Michael A Levy, Nicola Brunetti-Pierri, Gaetano Terrone, Cyril Mignot, Boris Keren, Thierry Billette de Villemeur, Catharina M L Volker-Touw, Nienke Verbeek, Jasper J van der Smagt, Renske Oegema, Alfredo Brusco, Giovanni Battista Ferrero, Mala Misra-Isrie, Ron Hochstenbach, Mariëlle Alders, Marcel M A M Mannens, Bekim Sadikovic, Mieke M van Haelst, Peter Henneman
Genetics in medicine : official journal of the American College of Medical Genetics, 2023, vol. 25
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler, Alison Schreiber, Adnan Alsadah, Derek E Neilson, Karin Naess, Anna Wedell, Anna Wredenberg, Arthur Sorlin, Emma McCann, George J Burghel, Beatriz Menendez, George E Hoganson, Lorenzo D Botto, Francis M Filloux, Ángel Aledo-Serrano, Antonio Gil-Nagel, Katrina Tatton-Brown, Nienke E Verbeek, Michele van Hirtum-Das, Jeroen Breckpot, Trine Bjørg Hammer, Rikke S Møller, Andrea Whitney, Andrew G L Douglas, Mira Kharbanda, Nicola Brunetti-Pierri, Manuela Morleo, Vincenzo Nigro, Halie J May, James X Tao, Emanuela Argili, Elliot H Sherr, William B Dobyns, Genomics England Research Consortium, Richard A Baines, Jim Warwicker, J Alex Parker, Siddharth Banka, Philippe M Campeau, Andrew Escayg
Brain : a journal of neurology, 2022, vol. 146, p.1357-1372
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Koen L van Gassen, Jasper J van der Smagt, Catharina M L Volker-Touw, Sjoerd J B Holwerda, Paulien A Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa A Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch-Andersen, Wallid Deb, Thomas Besnard, Marleen E H Simon, Karin Huijsdens-van Amsterdam, Nienke E Verbeek, Dena Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koen Devriendt, Anneleen Boogaerts, Marjolein Willemsen, Han G Brunner, Margje Sinnema, Bert B A De Vries, Erica H Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D Krantz, Zhou L Xu, Jill R Murrell, Irene Valenzuela, Ivon Cusco, Eulàlia Rovira-Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frederic Tran-Mau-Them, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Christophe Philippe, Stéphane Bezieau, Benjamin Cogné
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, vol. 24, p.1774-1780
