Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum von Vibert, Roseline, Mignot, Cyril, Keren, Boris, Chantot‐Bastaraud, Sandra, Portnoï, Marie‐France, Nouguès, Marie‐Christine, Moutard, Marie‐Laure, Faudet, Anne, Whalen, Sandra, Haye, Damien, Garel, Catherine, Chatron, Nicolas, Rossi, Massimiliano, Vincent‐Delorme, Catherine, Boute, Odile, Delobel, Bruno, Andrieux, Joris, Devillard, Françoise, Coutton, Charles, Puechberty, Jacques, Pebrel‐Richard, Céline, Colson, Cindy, Gerard, Marion, Missirian, Chantal, Sigaudy, Sabine, Busa, Tiffany, Doco‐Fenzy, Martine, Malan, Valérie, Rio, Marlène, Doray, Bérénice, Sanlaville, Damien, Siffroi, Jean‐Pierre, Héron, Delphine, Heide, Solveig

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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome von Schwartz, Mathias, Sternberg, Damien, Whalen, Sandra, Afenjar, Alexandra, Isapof, Arnaud, Chabrol, Brigitte, Portnoï, Marie‐France, Heide, Solveig, Keren, Boris, Chantot‐Bastaraud, Sandra, Siffroi, Jean‐Pierre

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Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure von Aboura, Azzedine, Dupas, Claire, Tachdjian, Gérard, Portnoï, Marie-France, Bourcigaux, Nathalie, Dewailly, Didier, Frydman, René, Fauser, Bart, Ronci-Chaix, Nathalie, Donadille, Bruno, Bouchard, Philippe, Christin-Maitre, Sophie

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A 14q distal chromoanagenesis elucidated by whole genome sequencing von Ader, Flavie, Heide, Solveig, Marzin, Pauline, Afenjar, Alexandra, Diguet, Flavie, Chantot Bastaraud, Sandra, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Portnoï, Marie-France, Siffroi, Jean-Pierre, Schluth-Bolard, Caroline

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Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers von Rouen, Alexandre, Balet, Richard, Dorna, Maud, Hyon, Capucine, Pollet-Villard, Xavier, Chantot-Bastaraud, Sandra, Joyé, Nicole, Portnoï, Marie-France, Cassuto, Nino Guy, Siffroi, Jean-Pierre

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Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements von Lévy, Jonathan, Receveur, Aline, Jedraszak, Guillaume, Chantot-Bastaraud, Sandra, Renaldo, Florence, Gondry, Jean, Andrieux, Joris, Copin, Henri, Siffroi, Jean-Pierre, Portnoï, Marie-France

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Microduplication 22q11.2: A new chromosomal syndrome von Portnoï, Marie-France

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Discovery of a Large Deletion of KAL1 in 2 Deaf Brothers von Marlin, Sandrine, Chantot-Bastaraud, Sandra, David, Albert, Loundon, Natalie, Jonard, Laurence, Portnoï, Marie-France, Bonnet, Crystel, Louha, Malek, Gherbi, Souad, Garabedian, Eréa Noël, Couderc, Remy, Denoyelle, Françoise

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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies von Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, W H Irwin, Patin, Etienne, Rajpert-De Meyts, Ewa, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu

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Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome von Saugier-Veber, Pascale, Bonnet, Céline, Afenjar, Alexandra, Drouin-Garraud, Valérie, Coubes, Christine, Fehrenbach, Séverine, Holder-Espinasse, Muriel, Roume, Joëlle, Malan, Valérie, Portnoi, Marie-France, Jeanne, Nicolas, Baumann, Clarisse, Héron, Delphine, David, Albert, Gérard, Marion, Bonneau, Dominique, Lacombe, Didier, Cormier-Daire, Valérie, Billette de Villemeur, Thierry, Frébourg, Thierry, Bürglen, Lydie

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Familial Turner syndrome with an X;Y translocation mosaicism: Implications for genetic counseling von Portnoï, Marie-France, Chantot-Bastaraud, Sandra, Christin-Maitre, Sophie, Carbonne, Bruno, Beaujard, Marie-Paule, Keren, Boris, Lévy, Jonathan, Dommergues, Marc, Cabrol, Sylvie, Hyon, Capucine, Siffroi, Jean-pierre

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Fertility defects revealing germline biallelic nonsense NBN mutations von Warcoin, Mathilde, Lespinasse, James, Despouy, Gilles, Dubois d'Enghien, Catherine, Laugé, Anthony, Portnoï, Marie-France, Christin-Maitre, Sophie, Stoppa-Lyonnet, Dominique, Henri Stern, Marc

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A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation von Hyon, Capucine, Marlin, Sandrine, Chantot-Bastaraud, Sandra, Mabboux, Philippe, Beaujard, Marie-Paule, Al Ageeli, Essam, Vazquez, Marie-Paule, Picard, Arnaud, Siffroi, Jean-Pierre, Portnoï, Marie-France

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Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure von Tachdjian, Gérard, Aboura, Azzedine, Portnoï, Marie-France, Pasquier, Maud, Bourcigaux, Nathalie, Simon, Tabassome, Rousseau, Ghislaine, Finkel, Lina, Benkhalifa, Moncef, Christin-Maitre, Sophie

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH von Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, Doco-Fenzy, Martine

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Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23‐pter von Gruchy, Nicolas, Jacquemont, Marie‐Line, Lyonnet, Stanislas, Labrune, Philippe, El Kamel, Imen, Siffroi, Jean‐Pierre, Portnoï, Marie‐France

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Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays von Beaujard, Marie-Paule, Chantot, Sandra, Dubois, Michèle, Keren, Boris, Carpentier, Wassila, Mabboux, Philippe, Whalen, Sandra, Vodovar, Michel, Siffroi, Jean-Pierre, Portnoï, Marie-France

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Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency von Lirussi, Frédéric, Jonard, Laurence, Gaston, Véronique, Sanlaville, Damien, Kooy, R. Frank, Winnepenninckx, Birgitta, Maher, Eamonn R., FitzPatrick, David R., Gicquel, Christine, Portnoï, Marie-France, Couderc, Rémy, Vazquez, Marie-Paule, Bahuau, Michel

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Mechanism of intrachromosomal triplications 15q11‐q13: A new clinical report von Vialard, François, Mignon‐Ravix, Cécile, Parain, Dominique, Depetris, Danielle, Portnoï, Marie‐France, Moirot, Hélène, Mattei, Marie‐Geneviève

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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 von Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte

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