De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitse... von Cappuccio, Gerarda, Sayou, Camille, Tanno, Pauline Le, Tisserant, Emilie, Bruel, Ange-Line, Kennani, Sara El, Sá, Joaquim, Low, Karen J., Dias, Cristina, Havlovicová, Markéta, Hančárová, Miroslava, Eichler, Evan E., Devillard, Françoise, Moutton, Sébastien, Van-Gils, Julien, Dubourg, Christèle, Odent, Sylvie, Gerard, Bénédicte, Piton, Amélie, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Firth, Helen, Metcalfe, Kay, Moh, Anna, Chapman, Kimberly A., Aref-Eshghi, Erfan, Kerkhof, Jennifer, Torella, Annalaura, Nigro, Vincenzo, Perrin, Laurence, Piard, Juliette, Le Guyader, Gwenaël, Jouan, Thibaud, Thauvin-Robinet, Christel, Duffourd, Yannis, George-Abraham, Jaya K., Buchanan, Catherine A., Williams, Denise, Kini, Usha, Wilson, Kate, Sousa, Sérgio B., Hennekam, Raoul C. M., Sadikovic, Bekim, Thevenon, Julien, Govin, Jérôme, Vitobello, Antonio, Brunetti-Pierri, Nicola

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice von De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome von Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin

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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature von Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus von Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel

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CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays von Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier, Blouin, Stéphane, Ali, Nur’Ain B., Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S. Zakiah A., van Hul, Noémi, Caldez, Matias J., Van Maldergem, Lionel, Yigit, Gökhan, Kayserili, Hülya, Youssef, Sameh A., Coppola, Vincenzo, de Bruin, Alain, Tessarollo, Lino, Choi, Hyungwon, Rupp, Verena, Roetzer, Katharina, Roschger, Paul, Klaushofer, Klaus, Altmüller, Janine, Roy, Sudipto, Venkatesh, Byrappa, Ganger, Rudolf, Grill, Franz, Ben Chehida, Farid, Wollnik, Bernd, Altunoglu, Umut, Al Kaissi, Ali, Reversade, Bruno, Kaldis, Philipp

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A clinical scoring system for congenital contractural arachnodactyly von Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M., Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J., Hanna, Bernadette C., Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M., McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S., Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C., Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, Callewaert, Bert

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Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function von Ruaud, Lyse, Rice, Gillian I., Cabrol, Christelle, Piard, Juliette, Rodero, Mathieu, Eyk, Lien, Boucher‐Brischoux, Elise, Noordhout, Alain Maertens, Maré, Ricardo, Scalais, Emmanuel, Pauly, Fernand, Debray, François‐Guillaume, Dobyns, William, Uggenti, Carolina, Park, Ji Woo, Hur, Sun, Livingston, John H., Crow, Yanick J., Maldergem, Lionel

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Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2 von Piard, Juliette, Mignot, Brigitte, Arbez-Gindre, Francine, Aubert, Didier, Morel, Yves, Roze, Virginie, McElreavy, Kenneth, Jonveaux, Philippe, Valduga, Mylène, Van Maldergem, Lionel

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature von Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C., Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations von Colombo, Elisa Adele, Mutlu-Albayrak, Hatice, Shafeghati, Yousef, Balasar, Mine, Piard, Juliette, Gentilini, Davide, Di Blasio, Anna Maria, Gervasini, Cristina, Van Maldergem, Lionel, Larizza, Lidia

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POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism von Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.

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Biallelic postzygotic RASA1 variants in a germline-negative patient with capillary malformation-arteriovenous malformation von Tournier, Céline Granier, Severino-Freire, Maella, Mazereeuw-Hautier, Juliette, Denos, Charlene, Piard, Juliette, Vabres, Pierre, Kuentz, Paul

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Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al von Horta, Edgar, Dahlen, Eric, Engel, Camille, Piard, Juliette, Thauvin-Robinet, Christel, Faivre, Laurence, Vabres, Pierre, Kuentz, Paul

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Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy von Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy von Piard, Juliette, Umanah, George K Essien, Harms, Frederike L, Abalde-Atristain, Leire, Amram, Daniel, Chang, Melissa, Chen, Rong, Alawi, Malik, Salpietro, Vincenzo, Rees, Mark I, Chung, Seo-Kyung, Houlden, Henry, Verloes, Alain, Dawson, Ted M, Dawson, Valina L, Van Maldergem, Lionel, Kutsche, Kerstin

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Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome von Kuentz, Paul, Engel, Camille, Laeng, Mathieu, Chevarin, Martin, Duffourd, Yannis, Martel, Jéhanne, Piard, Juliette, Morice-Picard, Fanny, Aubert, Helene, Bessis, Didier, Guerrot, Anne-Marie, Maruani, Annabel, Boccara, Olivia, Mazereeuw-Hautier, Juliette, Ott, Hagen, Phan, Alice, Puzenat, Eve, Quelin, Chloe, Thauvin-Robinet, Christel, Faivre, Laurence, Vabres, Pierre

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Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities von Engel, Camille, Chevarin, Martin, Piard, Juliette, Abad, Marine, Thomas, Quentin, Carmignac, Virginie, Duffourd, Yannis, Lemesle-Martin, Martine, Tarris, Georges, Thauvin-Robinet, Christel, Vabres, Pierre, Faivre, Laurence, Kuentz, Paul

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Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia von Ekmen, Asya, Meneret, Aurelie, Valabregue, Romain, Beranger, Benoit, Worbe, Yulia, Lamy, Jean-Charles, Mehdi, Sofien, Herve, Anais, Adanyeguh, Isaac, Temiz, Gizem, Damier, Philippe, Gras, Domitille, Roubertie, Agathe, Piard, Juliette, Navarro, Vincent, Mutez, Eugenie, Riant, Florence, Welniarz, Quentin, Vidailhet, Marie, Lehericy, Stephane, Meunier, Sabine, Gallea, Cecile, Roze, Emmanuel

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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X von Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel

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