Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders von Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

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The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus von Piard, Juliette, Béreau, Matthieu, XiangWei, Wenshu, Wirth, Thomas, Amsallem, Daniel, Buisson, Lauren, Richard, Philippe, Liu, Nana, Xu, Yuchen, Myers, Scott J., Traynelis, Stephen F., Chelly, Jameleddine, Anheim, Mathieu, Raynaud, Martine, Maldergem, Lionel Van, Yuan, Hongjie

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Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome von Tovy, Ayala, Rosas, Carina, Gaikwad, Amos S, Medrano, Geraldo, Zhang, Linda, Reyes, Jaime M, Huang, Yung-Hsin, Arakawa, Tastuhiko, Kurtz, Kristen, Conneely, Shannon E, Guzman, Anna G, Aguilar, Rogelio, Gao, Anne, Chen, Chun-Wei, Kim, Jean J, Carter, Melissa T, Lasa-Aranzasti, Amaia, Valenzuela, Irene, Van Maldergem, Lionel, Brunetti, Lorenzo, Hicks, M John, Marcogliese, Andrea N, Goodell, Margaret A, Rau, Rachel E

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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder von Lévy, Jonathan, Schell, Bérénice, Nasser, Hala, Rachid, Myriam, Ruaud, Lyse, Couque, Nathalie, Callier, Patrick, Faivre, Laurence, Marle, Nathalie, Engwerda, Aafke, Ravenswaaij‐Arts, Conny M. A., Plutino, Morgane, Karmous‐Benailly, Houda, Benech, Caroline, Redon, Sylvia, Boute, Odile, Boudry Labis, Elise, Rama, Mélanie, Kuentz, Paul, Assoumani, Jessica, Maldergem, Lionel Van, Dupont, Céline, Verloes, Alain, Tabet, Anne‐Claude

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MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells von Harhouri, Karim, Cau, Pierre, Casey, Frank, Guedenon, Koffi Mawuse, Doubaj, Yassamine, Van Maldergem, Lionel, Mejia-Baltodano, Gerardo, Bartoli, Catherine, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation von De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel, De Paepe, Anne, Veitia, Reiner, Messiaen, Ludwine

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Coenzyme Q- responsive Leigh's encephalopathy in two sisters von Van Maldergem, Lionel, Trijbels, Frans, DiMauro, Salvatore, Sindelar, Pavel J., Musumeci, Olimpia, Janssen, Antoon, Delberghe, Xavier, Martin, Jean-Jacques, Gillerot, Yves

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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome von Munroe, Patricia B., Olgunturk, Rana O., Fryns, Jean-Pierre, Maldergem, Lionel Van, Ziereisen, France, Yuksel, Bulend, Gardiner, R. Mark, Chung, Eddie

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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development von Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P

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RAD21 Mutations Cause a Human Cohesinopathy von Deardorff, Matthew A., Wilde, Jonathan J., Albrecht, Melanie, Dickinson, Emma, Tennstedt, Stephanie, Braunholz, Diana, Mönnich, Maren, Yan, Yuqian, Xu, Weizhen, Gil-Rodríguez, María Concepcion, Clark, Dinah, Hakonarson, Hakon, Halbach, Sara, Michelis, Laura Daniela, Rampuria, Abhinav, Rossier, Eva, Spranger, Stephanie, Van Maldergem, Lionel, Lynch, Sally Ann, Gillessen-Kaesbach, Gabriele, Lüdecke, Hermann-Josef, Ramsay, Robert G., McKay, Michael J., Krantz, Ian D., Xu, Huiling, Horsfield, Julia A., Kaiser, Frank J.

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes von 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

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations von Ader, Flavie, De Groote, Pascal, Réant, Patricia, Rooryck‐Thambo, Caroline, Dupin‐Deguine, Delphine, Rambaud, Caroline, Khraiche, Diala, Perret, Claire, Pruny, Jean François, Mathieu‐Dramard, Michèle, Gérard, Marion, Troadec, Yann, Gouya, Laurent, Jeunemaitre, Xavier, Van Maldergem, Lionel, Hagège, Albert, Villard, Eric, Charron, Philippe, Richard, Pascale

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Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans von Lu, Hsiang-Chih, Tan, Qiumin, Rousseaux, Maxime W C, Wang, Wei, Kim, Ji-Yoen, Richman, Ronald, Wan, Ying-Wooi, Yeh, Szu-Ying, Patel, Jay M, Liu, Xiuyun, Lin, Tao, Lee, Yoontae, Fryer, John D, Han, Jing, Chahrour, Maria, Finnell, Richard H, Lei, Yunping, Zurita-Jimenez, Maria E, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Van Maldergem, Lionel, Lehalle, Daphne, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Thevenon, Julien, Cousin, Margot A, Bro, Della E, Lanpher, Brendan C, Klee, Eric W, Alexander, Nora, Bainbridge, Matthew N, Orr, Harry T, Sillitoe, Roy V, Ljungberg, M Cecilia, Liu, Zhandong, Schaaf, Christian P, Zoghbi, Huda Y

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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome von McElreavey, Ken, Jorgensen, Anne, Eozenou, Caroline, Merel, Tiphanie, Bignon-Topalovic, Joelle, Tan, Daisylyn Senna, Houzelstein, Denis, Buonocore, Federica, Warr, Nick, Kay, Raissa G. G., Peycelon, Matthieu, Siffroi, Jean-Pierre, Mazen, Inas, Achermann, John C., Shcherbak, Yuliya, Leger, Juliane, Sallai, Agnes, Carel, Jean-Claude, Martinerie, Laetitia, Le Ru, Romain, Conway, Gerard S., Mignot, Brigitte, Van Maldergem, Lionel, Bertalan, Rita, Globa, Evgenia, Brauner, Raja, Jauch, Ralf, Nef, Serge, Greenfield, Andy, Bashamboo, Anu

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging von Jeffries, Aaron R, Maroofian, Reza, Salter, Claire G, Chioza, Barry A, Cross, Harold E, Patton, Michael A, Dempster, Emma, Temple, I Karen, Mackay, Deborah J G, Rezwan, Faisal I, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F, Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H, Baple, Emma L

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Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort von Meester, Josephina A.N., Sukalo, Maja, Schröder, Kim C., Schanze, Denny, Baynam, Gareth, Borck, Guntram, Bramswig, Nuria C., Duman, Duygu, Gilbert‐Dussardier, Brigitte, Holder‐Espinasse, Muriel, Itin, Peter, Johnson, Diana S., Joss, Shelagh, Koillinen, Hannele, McKenzie, Fiona, Morton, Jenny, Nelle, Heike, Reardon, Willie, Roll, Claudia, Salih, Mustafa A., Savarirayan, Ravi, Scurr, Ingrid, Splitt, Miranda, Thompson, Elizabeth, Titheradge, Hannah, Travers, Colm P., Maldergem, Lionel, Whiteford, Margo, Wieczorek, Dagmar, Vandeweyer, Geert, Trembath, Richard, Laer, Lut, Loeys, Bart L., Zenker, Martin, Southgate, Laura, Wuyts, Wim

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment von Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra

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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature von Lerat, Justine, Jonard, Laurence, Loundon, Natalie, Christin-Maitre, Sophie, Lacombe, Didier, Goizet, Cyril, Rouzier, Cécile, Van Maldergem, Lionel, Gherbi, Souad, Garabedian, Eréa-Nöel, Bonnefont, Jean- Paul, Touraine, Philippe, Mosnier, Isabelle, Munnich, Arnold, Denoyelle, Françoise, Marlin, Sandrine

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome von Kelley, B. P, Malfait, F, Bonafe, L, Baldridge, D, Homan, E, Symoens, S, Willaert, A, Elcioglu, N, Van Maldergem, Lionel, Verellen-Dumoulin, C, Gillerot, Y, Napierala, D, Krakow, D, Beighton, P, Superti-Furga, A, De Paepe, Alexandra, Lee, B

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Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy von Liu, Hui, Giguet‐Valard, Anna‐Gaëlle, Simonet, Thomas, Szenker‐Ravi, Emmanuelle, Lambert, Laetitia, Vincent‐Delorme, Catherine, Scheidecker, Sophie, Fradin, Mélanie, Morice‐Picard, Fanny, Naudion, Sophie, Ciorna‐Monferrato, Viorica, Colin, Estelle, Fellmann, Florence, Blesson, Sophie, Jouk, Pierre‐Simon, Francannet, Christine, Petit, Florence, Moutton, Sébastien, Lehalle, Daphné, Chassaing, Nicolas, El Zein, Loubna, Bazin, Anne, Bénéteau, Claire, Attié‐Bitach, Tania, Hanu, Sylvie M., Brechard, Marie‐Pierre, Chiesa, Jean, Pasquier, Laurent, Rooryck‐Thambo, Caroline, Van Maldergem, Lionel, Cabrol, Christelle, El Chehadeh, Salima, Vasiljevic, Alexandre, Isidor, Bertrand, Abel, Carine, Thevenon, Julien, Di Filippo, Sylvie, Vigouroux‐Castera, Adeline, Attia, Jocelyne, Quelin, Chloé, Odent, Sylvie, Piard, Juliette, Giuliano, Fabienne, Putoux, Audrey, Khau Van Kien, Philippe, Yardin, Catherine, Touraine, Renaud, Reversade, Bruno, Bouvagnet, Patrice

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