Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life by Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra, Sanlaville, Damien, Villeneuve, Nathalie, Darmency-Stamboul, Véronique, Toutain, Annick, Lefebvre, Mathilde, Chouchane, Mondher, Huet, Frédéric, Lafon, Arnaud, de Saint Martin, Anne, Lesca, Gaetan, El Chehadeh, Salima, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, Odent, Sylvie, Villard, Laurent, Philippe, Christophe, Faivre, Laurence, Rivière, Jean-Baptiste

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Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis by Masurel-Paulet, Alice, Drumare, Isabelle, Holder, Muriel, Cuisset, Jean-Marie, Vallée, Louis, Defoort, Sabine, Bourgois, Béatrice, Pernes, Philippe, Cuvellier, Jean-Christophe, Huet, Frédéric, Chehadeh, Salima El, Thevenon, Julien, Callier, Patrick, Thauvin, Christel, Faivre, Laurence, Andrieux, Joris

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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype cor... by Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, Bellescize, Julietta, Villard, Laurent, Saint Martin, Anne, Milh, Mathieu

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An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation by Mosca-Boidron, Anne-Laure, Faivre, Laurence, Aho, Serge, Marle, Nathalie, Truntzer, Caroline, Rousseau, Thierry, Ragon, Clémence, Payet, Muriel, Thauvin-Robinet, Christelle, Thevenon, Julien, El Chehadeh, Salima, Huet, Fréderic, Sagot, Paul, Mugneret, Francine, Callier, Patrick

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IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation by Gottschalk, Ilona, Kölsch, Uwe, Wagner, Dimitrios L., Kath, Jonas, Martini, Stefania, Krüger, Renate, Puel, Anne, Casanova, Jean-Laurent, Jezela-Stanek, Aleksandra, Rossi, Rainer, Chehadeh, Salima El, Van Esch, Hilde, von Bernuth, Horst

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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome by Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G., Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne‐Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L., Mefford, Heather C., Myers, Candace T., Howell, Katherine B., Rodríguez‐Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F., de Wit, Marie Claire Y., Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima

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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2 by Zhu, Gaofeng, Badonyi, Mihaly, Franklin, Lina, Seabra, Luis, Rice, Gillian I., Anne-Boland-Auge, Deleuze, Jean-François, El-Chehadeh, Salima, Anheim, Mathieu, de Saint-Martin, Anne, Pellegrini, Sandra, Marsh, Joseph A., Crow, Yanick J., El-Daher, Marie-Therese

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Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome by Gerasimenko, Anna, Mignot, Cyril, Naggara, Olivier, Coulet, Florence, Ekram, Samar, Heide, Solveig, Sorato, Clarisse, Mazowiecki, Maxime, Perrin, Laurence, Colas, Chrystelle, Cusin, Veronica, Caux, Frédéric, Dardenne, Antoine, El Chehadeh, Salima, Verloes, Alain, Maurey, Hélène, Afenjar, Alexandra, Petit, Florence, Barete, Stéphane, Boespflug‐Tanguy, Odile, Bourrat, Emmanuelle, Capri, Yline, Ciorna, Viorica, Deb, Wallid, Doummar, Diane, Perrier, Alexandre, Guédon, Alexis, Houdart, Emmanuel, Isidor, Bertrand, Jacquemont, Marie‐Line, Buffet, Camille, Mercier, Sandra, Passemard, Sandrine, Riquet, Audrey, Ruaud, Lyse, Schaefer, Elise, Heron, Delphine, Bisdorff, Annouk, Benusiglio, Patrick R.

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects by Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François

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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice by El Chehadeh, Salima, Han, Kyung Ah, Kim, Dongwook, Jang, Gyubin, Bakhtiari, Somayeh, Lim, Dongseok, Kim, Hee Young, Kim, Jinhu, Kim, Hyeonho, Wynn, Julia, Chung, Wendy K., Vitiello, Giuseppina, Cutcutache, Ioana, Page, Matthew, Gecz, Jozef, Harper, Kelly, Han, Ah-reum, Kim, Ho Min, Wessels, Marja, Bayat, Allan, Jaén, Alberto Fernández, Selicorni, Angelo, Maitz, Silvia, de Brouwer, Arjan P. M., Silfhout, Anneke Vulto-van, Armstrong, Martin, Symonds, Joseph, Küry, Sébastien, Isidor, Bertrand, Cogné, Benjamin, Nizon, Mathilde, Feger, Claire, Muller, Jean, Torti, Erin, Grange, Dorothy K., Willems, Marjolaine, Kruer, Michael C., Ko, Jaewon, Piton, Amélie, Um, Ji Won

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Growth charts in DYRK1A syndrome by Lanvin, Pierre‐Louis, Goronflot, Thomas, Isidor, Bertrand, Nizon, Mathilde, Durand, Benjamin, El Chehadeh, Salima, Geneviève, David, Ruault, Valentin, Fradin, Mélanie, Pasquier, Laurent, Thévenon, Julien, Delobel, Bruno, Burglen, Lydie, Afenjar, Alexandra, Faivre, Laurence, Francannet, Christine, Guerrot, Anne‐Marie, Goldenberg, Alice, Mercier, Sandra, Héron, Delphine, Lehalle, Daphné, Mignot, Cyril, Marey, Isabelle, Charles, Perrine, Moutton, Sébastien, Bézieau, Stéphane, Bayat, Allan, Piton, Amélie, Willems, Marjolaine, Vincent, Marie

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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome by Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie

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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs by Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Loviglio, Maria Nicla, Jønch, Aia Elise, Popadin, Konstantin, Giannuzzi, Giuliana, Maillard, Anne M., Fagerberg, Christina, Andersen, Charlotte Brasch, Doco-Fenzy, Martine, Delrue, Marie-Ange, Faivre, Laurence, Arveiler, Benoit, Geneviève, David, Schneider, Anouck, Gerard, Marion, Andrieux, Joris, El Chehadeh, Salima, Schaefer, Elise, Depienne, Christel, Van Haelst, Mieke, Brilstra, Eva H., Van Binsbergen, Ellen, van Harssel, Jeske, van der Veken, Lars T., Gusella, James F., Shen, Yiping, Mitchell, Elyse, Kini, Usha, Hawkes, Lara, Campbell, Carolyn, Butschi, Florence Niel, Addor, Marie-Claude, Beckmann, Jacques S., Jacquemont, Sébastien, Reymond, Alexandre, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

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Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype by El Chehadeh, Salima, Legrand, Anne, Stoetzel, Corinne, Geoffroy, Véronique, Billon, Clarisse, Adham, Salma, Jeunemaître, Xavier, Jaussaud, Roland, Muller, Jean, Schaefer, Elise, Benistan, Karelle, Gaertner, Sébastien, Bloch‐Zupan, Agnès, Courval, Aymeric, Manière, Marie‐Cécile, Petit, Catherine, Bursztejn, Anne‐Claire, Bal, Laurence, Reyre, Anthony, Chammas, Agathe, Busa, Tiffany, Dollfus, Hélène, Lipsker, Dan

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features by Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F

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Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature by Le Van Quyen, Pauline, Calmels, Nadège, Bonnière, Maryse, Chartier, Suzanne, Razavi, Féréchté, Chelly, Jamel, El Chehadeh, Salima, Baer, Sarah, Boutaud, Lucile, Bacrot, Séverine, Obringer, Cathy, Favre, Romain, Attié‐Bitach, Tania, Laugel, Vincent, Antal, Maria C.

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome by Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie

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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 by Juven, Aurélien, Nambot, Sophie, Piton, Amélie, Jean-Marçais, Nolwenn, Masurel, Alice, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Kuentz, Paul, Philippe, Christophe, Chevarin, Martin, Duffourd, Yannis, Gautier, Elodie, Munnich, Arnold, Rio, Marlène, Rondeau, Sophie, El Chehadeh, Salima, Schaefer, Élise, Gérard, Bénédicte, Bouquillon, Sonia, Delorme, Catherine Vincent, Francannet, Christine, Laffargue, Fanny, Gouas, Laetitia, Isidor, Bertrand, Vincent, Marie, Blesson, Sophie, Giuliano, Fabienne, Pichon, Olivier, Le Caignec, Cédric, Journel, Hubert, Perrin-Sabourin, Laurence, Fabre-Teste, Jennifer, Martin, Dominique, Vieville, Gaelle, Dieterich, Klaus, Lacombe, Didier, Denommé-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, Faivre, Laurence

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis by Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

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Heterozygous deletion of the LRFN2 gene is associated with working memory deficits by Thevenon, Julien, Souchay, Céline, Seabold, Gail K, Dygai-Cochet, Inna, Callier, Patrick, Gay, Sébastien, Corbin, Lucie, Duplomb, Laurence, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, El Chehadeh, Salima, Avila, Magali, Minot, Delphine, Guedj, Eric, Chancenotte, Sophie, Bonnet, Marlène, Lehalle, Daphne, Wang, Ya-Xian, Kuentz, Paul, Huet, Frédéric, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Petralia, Ronald S, Faivre, Laurence

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