CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons
Ricciardi, Sara, Ungaro, Federica, Hambrock, Melanie, Rademacher, Nils, Stefanelli, Gilda, Brambilla, Dario, Sessa, Alessandro, Magagnotti, Cinzia, Bachi, Angela, Giarda, Elisa, Verpelli, Chiara, Kilstrup-Nielsen, Charlotte, Sala, Carlo, Kalscheuer, Vera M., Broccoli, Vania
Published in Nature cell biology (01.09.2012)
Published in Nature cell biology (01.09.2012)
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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Depienne, Christel, Dr, Bugiani, Marianna, MD, Dupuits, Céline, MSc, Galanaud, Damien, Prof, Touitou, Valérie, Postma, Nienke, van Berkel, Carola, Polder, Emiel, Tollard, Eleonore, MD, Darios, Frédéric, PhD, Brice, Alexis, Prof, de Die-Smulders, Christine E, Prof, Vles, Johannes S, Prof, Vanderver, Adeline, MD, Uziel, Graziella, MD, Yalcinkaya, Cengiz, Prof, Frints, Suzanna G, MD, Kalscheuer, Vera M, PhD, Klooster, Jan, MSc, Kamermans, Maarten, Prof, Abbink, Truus EM, PhD, Wolf, Nicole I, MD, Sedel, Frédéric, MD, van der Knaap, Marjo S, Prof
Published in Lancet neurology (01.07.2013)
Published in Lancet neurology (01.07.2013)
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Endele, Sabine, Rosenberger, Georg, Geider, Kirsten, Popp, Bernt, Tamer, Ceyhun, Stefanova, Irina, Milh, Mathieu, Kortum, Fanny, Fritsch, Angela, Pientka, Friederike K, Hellenbroich, Yorck, Kalscheuer, Vera M, Kohlhase, Jurgen, Moog, Ute, Rappold, Gudrun, Rauch, Anita, Ropers, Hans-Hilger, von Spiczak, Sarah, Tonnies, Holger, Villeneuve, Nathalie, Villard, Laurent, Zabel, Bernhard, Zenker, Martin, Laube, Bodo, Reis, Andre, Wieczorek, Dagmar, Van Maldergem, Lionel, Kutsche, Kerstin
Published in Nature genetics (01.11.2010)
Published in Nature genetics (01.11.2010)
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy
Haddad, Dominik M., Vilain, Sven, Vos, Melissa, Esposito, Giovanni, Matta, Samer, Kalscheuer, Vera M., Craessaerts, Katleen, Leyssen, Maarten, Nascimento, Rafaella M.P., Vianna-Morgante, Angela M., De Strooper, Bart, Van Esch, Hilde, Morais, Vanessa A., Verstreken, Patrik
Published in Molecular cell (27.06.2013)
Published in Molecular cell (27.06.2013)
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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
LINGLI HUANG, JOLLY, Lachlan A, HACKETT, Anna, FIELD, Michael, FROYEN, Guy, HAO HU, HAAS, Stefan A, ROPERS, Hans-Hilger, KALSCHEUER, Vera M, CORBETT, Mark A, GECZ, Jozef, WILLIS-OWEN, Saffron, GARDNER, Alison, KUMAR, Raman, DOUGLAS, Evelyn, SHOUBRIDGE, Cheryl, WIECZOREK, Dagmar, TZSCHACH, Andreas, COHEN, Monika
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Schöpflin, Robert, Melo, Uirá Souto, Moeinzadeh, Hossein, Heller, David, Laupert, Verena, Hertzberg, Jakob, Holtgrewe, Manuel, Alavi, Nico, Klever, Marius-Konstantin, Jungnitsch, Julius, Comak, Emel, Türkmen, Seval, Horn, Denise, Duffourd, Yannis, Faivre, Laurence, Callier, Patrick, Sanlaville, Damien, Zuffardi, Orsetta, Tenconi, Romano, Kurtas, Nehir Edibe, Giglio, Sabrina, Prager, Bettina, Latos-Bielenska, Anna, Vogel, Ida, Bugge, Merete, Tommerup, Niels, Spielmann, Malte, Vitobello, Antonio, Kalscheuer, Vera M., Vingron, Martin, Mundlos, Stefan
Published in Nature communications (29.10.2022)
Published in Nature communications (29.10.2022)
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Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis
Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M, Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto
Published in Proceedings of the National Academy of Sciences - PNAS (04.09.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (04.09.2012)
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Effect of inbreeding on intellectual disability revisited by trio sequencing
Kahrizi, Kimia, Hu, Hao, Hosseini, Masoumeh, Kalscheuer, Vera M., Fattahi, Zohreh, Beheshtian, Maryam, Suckow, Vanessa, Mohseni, Marzieh, Lipkowitz, Bettina, Mehvari, Sepideh, Mehrjoo, Zohreh, Akhtarkhavari, Tara, Ghaderi, Zhila, Rahimi, Maryam, Arzhangi, Sanaz, Jamali, Payman, Falahat Chian, Milad, Nikuei, Pooneh, Sabbagh Kermani, Farahnaz, Sadeghinia, Farnaz, Jazayeri, Roshanak, Tonekaboni, S. Hassan, Khoshaeen, Atefeh, Habibi, Haleh, Pourfatemi, Fatemeh, Mojahedi, Faezeh, Khodaie‐Ardakani, Mohammad‐Reza, Najafipour, Reza, Wienker, Thomas F., Najmabadi, Hossein, Ropers, Hans‐Hilger
Published in Clinical genetics (01.01.2019)
Published in Clinical genetics (01.01.2019)
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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.
Published in Annals of neurology (01.11.2014)
Published in Annals of neurology (01.11.2014)
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Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
Schell-Apacik, Chayim Can, Wagner, Kristina, Bihler, Moritz, Ertl-Wagner, Birgit, Heinrich, Uwe, Klopocki, Eva, Kalscheuer, Vera M., Muenke, Maximilian, von Voss, Hubertus
Published in American journal of medical genetics. Part A (01.10.2008)
Published in American journal of medical genetics. Part A (01.10.2008)
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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation
Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen
Published in American journal of human genetics (01.02.2005)
Published in American journal of human genetics (01.02.2005)
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Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
Kim, Hyung-Goo, Kim, Hyun-Taek, Leach, Natalia T., Lan, Fei, Ullmann, Reinhard, Silahtaroglu, Asli, Kurth, Ingo, Nowka, Anja, Seong, Ihn Sik, Shen, Yiping, Talkowski, Michael E., Ruderfer, Douglas, Lee, Ji-Hyun, Glotzbach, Caron, Ha, Kyungsoo, Kjaergaard, Susanne, Levin, Alex V., Romeike, Bernd F., Kleefstra, Tjitske, Bartsch, Oliver, Elsea, Sarah H., Jabs, Ethylin Wang, MacDonald, Marcy E., Harris, David J., Quade, Bradley J., Ropers, Hans-Hilger, Shaffer, Lisa G., Kutsche, Kerstin, Layman, Lawrence C., Tommerup, Niels, Kalscheuer, Vera M., Shi, Yang, Morton, Cynthia C., Kim, Cheol-Hee, Gusella, James F.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability
Chiou, Tzu-Ting, Long, Philip, Schumann-Gillett, Alexandra, Kanamarlapudi, Venkateswarlu, Haas, Stefan A, Harvey, Kirsten, O'Mara, Megan L, De Blas, Angel L, Kalscheuer, Vera M, Harvey, Robert J
Published in Frontiers in molecular neuroscience (12.03.2019)
Published in Frontiers in molecular neuroscience (12.03.2019)
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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Meziane, Hamid, Birling, Marie-Christine, Wendling, Olivia, Leblanc, Sophie, Dubos, Aline, Selloum, Mohammed, Pavlovic, Guillaume, Sorg, Tania, Kalscheuer, Vera M, Billuart, Pierre, Laumonnier, Frédéric, Chelly, Jamel, van Bokhoven, Hans, Herault, Yann
Published in Biomedicines (06.12.2022)
Published in Biomedicines (06.12.2022)
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