Mouse models of fragile X-related disorders by Rob Willemsen, R. Frank Kooy

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A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples. by Ilse M van der Werf, R Frank Kooy, Geert Vandeweyer

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De novo mutations, genetic mosaicism and human disease by Mohiuddin Mohiuddin, R. Frank Kooy, Christopher E. Pearson, Christopher E. Pearson

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Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network by Claudio D’Incal, Jitse Broos, Thierry Torfs, R. Frank Kooy, Wim Vanden Berghe

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Expanding the Phenotype of B3GALNT2-Related Disorders by Erika D’haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R. Frank Kooy, Bert Callewaert

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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease by Dale J. Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy

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Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model by Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy

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The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings by Illana Gozes, Marc C. Patterson, Anke Van Dijck, R. Frank Kooy, Joseph N. Peeden, Jacob A. Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone

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Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism by Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy

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A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome by Andrew Ligsay, Anke Van Dijck, Danh V. Nguyen, Reymundo Lozano, Yanjun Chen, Erika S. Bickel, David Hessl, Andrea Schneider, Kathleen Angkustsiri, Flora Tassone, Berten Ceulemans, R. Frank Kooy, Randi J. Hagerman

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Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. by Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy

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ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case by Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, lllana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy

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The translational regulator FMRP controls lipid and glucose metabolism in mice and humans by Antoine Leboucher, Didier F. Pisani, Laura Martinez-Gili, Julien Chilloux, Patricia Bermudez-Martin, Anke Van Dijck, Tariq Ganief, Boris Macek, Jérôme A.J. Becker, Julie Le Merrer, R. Frank Kooy, Ez-Zoubir Amri, Edouard W. Khandjian, Marc-Emmanuel Dumas, Laetitia Davidovic

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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on <i>FMR1</i> Premutation by Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

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