GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment von Zanetti, Andrea, Dujardin, Gwendal, Fares-Taie, Lucas, Amiel, Jeanne, Roger, Jérôme E., Audo, Isabelle, Robert, Matthieu P., David, Pierre, Jung, Vincent, Goudin, Nicolas, Guerrera, Ida Chiara, Moriceau, Stéphanie, Amana, Danielle, Assia Batzir, Nurit, Bachar-Zipori, Anat, Basel Salmon, Lina, Boddaert, Nathalie, Briault, Sylvain, Bruel, Ange-Line, Costet-Fighiera, Christine, Coutinho Santos, Luisa, Gitiaux, Cyril, Kaminska, Karolina, Kuentz, Paul, Orenstein, Naama, Philip-Sarles, Nicole, Plutino, Morgane, Quinodoz, Mathieu, Santos, Cristina, Sigaudy, Sabine, Soeiro e Sá, Mariana, Sofrin, Efrat, Sousa, Ana Berta, Sousa-Luis, Rui, Thauvin-Robinet, Christel, van Dijk, Erwin L., Zaafrane-Khachnaoui, Khaoula, Zur, Dinah, Kaplan, Josseline, Rivolta, Carlo, Rozet, Jean-Michel, Perrault, Isabelle

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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome von Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste

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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome von 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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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features von 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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Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots von ELLNATI, Elias, KUENTZ, Paul, LOUANJLI, Noureddine, IQBAL, Naeem, BISHARAH, Mazen, CARRE PIGEON, Frédérique, GOURABI, H, DE BRIEL, Dominique, BRUGNON, Florence, GITLIN, Susan A, GRILLO, Jean-Marc, GHAEDI, Kamran, REDIN, Claire, DEEMEH, Mohammad R, TANHAEI, Somayeh, MODARRES, Parastoo, HEINDRYCKX, Björn, BENKHALIFA, Moncef, NIKIFORAKI, Dimitra, OEHNINGER, Sergio C, DE SUTTER, Petra, MULLER, Jean, VIVILLE, Stephane, JABER, Sara, MEERSCHAUT, Frauke Vanden, MAKARIAN, Joelle, KOSCINSKI, Isabelle, NASR-ESFAHANI, Mohammad H, DEMIROL, Aygul, GURGAN, Timur

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New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review von Trajkova, Slavica, Di Gregorio, Eleonora, Ferrero, Giovanni Battista, Carli, Diana, Pavinato, Lisa, Delplancq, Geoffroy, Kuentz, Paul, Brusco, Alfredo

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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly von Ghaffar, Amama, Akhter, Tehmeena, Strømme, Petter, Misceo, Doriana, Khan, Amjad, Frengen, Eirik, Umair, Muhammad, Isidor, Bertrand, Cogné, Benjamin, Khan, Asma A., Bruel, Ange-Line, Sorlin, Arthur, Kuentz, Paul, Chiaverini, Christine, Innes, A. Micheil, Zech, Michael, Baláž, Marek, Havrankova, Petra, Jech, Robert, Ahmed, Zubair M., Riazuddin, Sheikh, Riazuddin, Saima

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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders von Colin, Estelle, Duffourd, Yannis, Chevarin, Martin, Tisserant, Emilie, Verdez, Simon, Paccaud, Julien, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Thevenon, Julien, Safraou, Hana, Besnard, Thomas, Goldenberg, Alice, Cogné, Benjamin, Isidor, Bertrand, Delanne, Julian, Sorlin, Arthur, Moutton, Sébastien, Fradin, Mélanie, Dubourg, Christèle, Gorce, Magali, Bonneau, Dominique, El Chehadeh, Salima, Debray, François-Guillaume, Doco-Fenzy, Martine, Uguen, Kevin, Chatron, Nicolas, Aral, Bernard, Marle, Nathalie, Kuentz, Paul, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Sanlaville, Damien, Callier, Patrick, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Vitobello, Antonio

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The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders von Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel

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L’hypomélanose d’Ito, symptôme ou diagnostic ? Diversité étiologique et mécanismes von Kuentz, Paul, Vabres, Pierre

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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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Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple von Kuentz, Paul, M.D, Bailly, Alphée, M.D, Faure, Anne-Claire, M.D, Blagosklonov, Oxana, M.D., Ph.D, Amiot, Clotilde, M.D., Ph.D, Bresson, Jean-Luc, M.D, Roux, Christophe, M.D., Ph.D

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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development von Lennox, Ashley L., Hoye, Mariah L., Jiang, Ruiji, Johnson-Kerner, Bethany L., Suit, Lindsey A., Venkataramanan, Srivats, Sheehan, Charles J., Alsina, Fernando C., Fregeau, Brieana, Aldinger, Kimberly A., Moey, Ching, Lobach, Iryna, Afenjar, Alexandra, Babovic-Vuksanovic, Dusica, Bézieau, Stéphane, Blackburn, Patrick R., Bunt, Jens, Burglen, Lydie, Campeau, Philippe M., Charles, Perrine, Chung, Brian H.Y., Cogné, Benjamin, Curry, Cynthia, D’Agostino, Maria Daniela, Di Donato, Nataliya, Faivre, Laurence, Héron, Delphine, Innes, A. Micheil, Isidor, Bertrand, Keren, Boris, Kimball, Amy, Klee, Eric W., Kuentz, Paul, Küry, Sébastien, Martin-Coignard, Dominique, Mirzaa, Ghayda, Mignot, Cyril, Miyake, Noriko, Matsumoto, Naomichi, Fujita, Atsushi, Nava, Caroline, Nizon, Mathilde, Rodriguez, Diana, Blok, Lot Snijders, Thauvin-Robinet, Christel, Thevenon, Julien, Vincent, Marie, Ziegler, Alban, Dobyns, William, Richards, Linda J., Barkovich, A. James, Floor, Stephen N., Silver, Debra L., Sherr, Elliott H.

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Quelles explorations génétiques pour caractériser et prendre en charge les malformations vasculaires ? von Kuentz, Paul, Vabres, Pierre

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O06 Clinical phenotype of the Klippel-Trenaunay syndrome with mosaic PIK3R1 mutations von Vabres, Pierre, Engel, Camille, Bessis, Didier, Morice-Picard4, Fanny, Aubert, Hélène, Isidor, Bertrand, Phan, Alice, Boccara, Olivia, Mazereeuw-Hautier, Juliette, Maruani-Raphaël, Annabel, Puzenat, Eve, Kuentz, Paul

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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis von Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

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AICA-ribosiduria due toATICdeficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case von Ramond, Francis, Rio, Marlene, Heron, Benedicte, Imbard, Apolline, Marie, Sandrine, Billiemaz, Kareen, Denomme-Pichon, Anne-Sophie, Kuentz, Paul, Ceballos, Irene, Piraud, Monique, Vincent, Marie-Francoise, Touraine, Renaud

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NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients von Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... von Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, Isidor, Bertrand

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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond von Marini, Carla, Porro, Alessandro, Rastetter, Agnès, Dalle, Carine, Rivolta, Ilaria, Bauer, Daniel, Oegema, Renske, Nava, Caroline, Parrini, Elena, Mei, Davide, Mercer, Catherine, Dhamija, Radhika, Chambers, Chelsea, Coubes, Christine, Thévenon, Julien, Kuentz, Paul, Julia, Sophie, Pasquier, Laurent, Dubourg, Christèle, Carré, Wilfrid, Rosati, Anna, Melani, Federico, Pisano, Tiziana, Giardino, Maria, Innes, A Micheil, Alembik, Yves, Scheidecker, Sophie, Santos, Manuela, Figueiroa, Sonia, Garrido, Cristina, Fusco, Carlo, Frattini, Daniele, Spagnoli, Carlotta, Binda, Anna, Granata, Tiziana, Ragona, Francesca, Freri, Elena, Franceschetti, Silvana, Canafoglia, Laura, Castellotti, Barbara, Gellera, Cinzia, Milanesi, Raffaella, Mancardi, Maria Margherita, Clark, Damien R, Kok, Fernando, Helbig, Katherine L, Ichikawa, Shoji, Sadler, Laurie, Neupauerová, Jana, Laššuthova, Petra, Štěrbová, Katalin, Laridon, Annick, Brilstra, Eva, Koeleman, Bobby, Lemke, Johannes R, Zara, Federico, Striano, Pasquale, Soblet, Julie, Smits, Guillaume, Deconinck, Nicolas, Barbuti, Andrea, DiFrancesco, Dario, LeGuern, Eric, Guerrini, Renzo, Santoro, Bina, Hamacher, Kay, Thiel, Gerhard, Moroni, Anna, DiFrancesco, Jacopo C, Depienne, Christel

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