Timing of cerebral damage in molybdenum cofactor deficiency
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Genetics in Medicine Open, 2024, vol. 2
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik, Christian Gilissen, Rolph Pfundt, Chiara Klöckner, Konrad Platzer, Annick Klabunde-Cherwon, Markus Ries, Steffen Syrbe, Francesca Beccaria, Francesca Madia, Marcello Scala, Federico Zara, Floris Hofstede, Marleen E H Simon, Richard H van Jaarsveld, Renske Oegema, Koen L I van Gassen, Sjoerd J B Holwerda, Tahsin Stefan Barakat, Arjan Bouman, Marjon van Slegtenhorst, Sara Álvarez, Alberto Fernández-Jaén, Javier Porta, Andrea Accogli, Margherita Maria Mancardi, Pasquale Striano, Michele Iacomino, Jong-Hee Chae, SeSong Jang, Soo Y Kim, David Chitayat, Saadet Mercimek-Andrews, Christel Depienne, Antje Kampmeier, Alma Kuechler, Harald Surowy, Enrico Silvio Bertini, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Marco Tartaglia, Lucas Gauthier, David Genevieve, Mylène Tharreau, Noy Azoulay, Gal Zaks-Hoffer, Nesia K Gilad, Naama Orenstein, Geneviève Bernard, Isabelle Thiffault, Jonas Denecke, Theresia Herget, Fanny Kortüm, Christian Kubisch, Robert Bähring, Stefan Kindler
American Journal of Human Genetics, 2024, vol. 111, p.1206-1221
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, Corinne De Laet, Philippe J. Goyens, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Paul Gissen, Jörgen Bierau, Peter M. van Hasselt, Gisela Wilcox, Andrew A.M. Morris, Elisabeth A. Jameson, Alicia de la Parra, Carolina Arias, Maria I. Garcia, Veronica Cornejo, Annet M. Bosch, Carla E.M. Hollak, M. Estela Rubio-Gozalbo, Martijn C.G.J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C.H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C.J. Huijbregts, Francjan J. van Spronsen
Journal of Inherited Metabolic Disease, 2022, vol. 45, p.952-962
Expanding the phenotype
Elizabeth A VanSickle, Julianne Michael, André S Bachmann, Surender Rajasekaran, Jeremy W Prokop, Ruben Kuzniecky, Floris C Hofstede, Katharina Steindl, Anita Rauch, Mark H Lipson, Caleb P Bupp
American Journal of Medical Genetics. Part A, 2021, vol. 185, p.3485-3493
Expanding the Spectrum of BAF-Related Disorders
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam,
American Journal of Human Genetics, 2019, vol. 104, p.164-178
