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
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza Meireles, Mariet W Elting, Quinten Waisfisz, Anne O'Donnell-Luria, Catherine Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita S Saenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia A L Ruivenkamp, Saskia Koene, Stephen P Robertson, Charulata Deshpande, Rolph Pfundt, Nienke Verbeek, Jiddeke M van de Kamp, Janneke M M Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange-Line Bruel, Arthur Sorlin, Mary Willis, Zoe Powis, Thomas Smol, Catherine Vincent-Delorme, Diana Baralle, Estelle Colin, Nicole Revencu, Eduardo Calpena, Jeroen Bakkers, Gijs van Haaften,
American Journal of Human Genetics, 2022, vol. 109, p.750-758
KCNT1-related epilepsies and epileptic encephalopathies
Claudia M Bonardi, Henrike O Heyne, Martina Fiannacca, Mark P Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaétan Lesca, Nienke Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria M Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stephanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An-Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie-Christine Nougues, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Edouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cecilia Desmettre Altuzarra, Nathalie Villeneuve, Fabrice Bartolomei, Fabienne Picard, Frauke Hornemann, David A Koolen, Hester Y Kroes, Chiara Reale, Christina D Fenger, Wen-Hann Tan, Leanne Dibbens, David R Bearden, Rikke S Møller, Guido Rubboli
Brain : a journal of neurology, 2021, vol. 144, p.3635-3650
