Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders von Tropeano, Maria, Ahn, Joo Wook, Dobson, Richard J B, Breen, Gerome, Rucker, James, Dixit, Abhishek, Pal, Deb K, McGuffin, Peter, Farmer, Anne, White, Peter S, Andrieux, Joris, Vassos, Evangelos, Ogilvie, Caroline Mackie, Curran, Sarah, Collier, David A

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The clinical significance of small copy number variants in neurodevelopmental disorders von Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G, Rauch, Anita

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The PI3K/AKT Signaling Pathway Controls the Quiescence of the Low‐Rhodamine123‐Retention Cell Compartment Enriched for Melanoma Stem Cell Activity von Touil, Yasmine, Zuliani, Thomas, Wolowczuk, Isabelle, Kuranda, Klaudia, Prochazkova, Jirina, Andrieux, Joris, Le Roy, Helene, Mortier, Laurent, Vandomme, Jerome, Jouy, Nathalie, Masselot, Bernadette, Ségard, Pascaline, Quesnel, Bruno, Formstecher, Pierre, Polakowska, Renata

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Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia von Nguyen-Khac, Florence, Lambert, Jerome, Chapiro, Elise, Grelier, Aurore, Mould, Sarah, Barin, Carole, Daudignon, Agnes, Gachard, Nathalie, Struski, Stéphanie, Henry, Catherine, Penther, Dominique, Mossafa, Hossein, Andrieux, Joris, Eclache, Virginie, Bilhou-Nabera, Chrystèle, Luquet, Isabelle, Terre, Christine, Baranger, Laurence, Mugneret, Francine, Chiesa, Jean, Mozziconacci, Marie-Joelle, Callet-Bauchu, Evelyne, Veronese, Lauren, Blons, Hélène, Owen, Roger, Lejeune, Julie, Chevret, Sylvie, Merle-Beral, Hélène, Leblondon, Véronique

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability von Asadollahi, Reza, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris, Rauch, Anita

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes von Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David

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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion von Chatron, Nicolas, Haddad, Véronique, Andrieux, Joris, Désir, Julie, Boute, Odile, Dieux, Anne, Baumann, Clarisse, Drunat, Séverine, Gérard, Marion, Bonnet, Céline, Leheup, Bruno, Till, Marianne, Rossi, Massimiliano, Flori, Elisabeth, Alembik, Yves, Stewart, Helen, McParland, Joanna, Bernardini, Laura, Castelluccio, Pia, Roos, Laura, Tümer, Zeynep, Fagan, Kerry, Hackett, Anna, Bain, Nicole, van Haeringen, Arie, Ruivenkamp, Claudia, Benzacken, Brigitte, Sanlaville, Damien, Edery, Patrick, Aboura, Azzedine, Schluth-Bolard, Caroline

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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases von Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, Andrieux, Joris

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Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis von 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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Quintuplets after a transfer of two embryos following in vitro fertilization: a proved superfecundation von Peigné, Maëliss, M.D, Andrieux, Joris, M.D., Ph.D, Deruelle, Philippe, M.D., Ph.D, Vuillaume, Isabelle, M.D, Leroy, Maryse, M.D

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Clinical Comparison of Overlapping Deletions of 19p13.3 von Risheg, Hiba, Pasion, Romela, Sacharow, Stephanie, Proud, Virginia, Immken, LaDonna, Schwartz, Stuart, Tepperberg, Jim H., Papenhausen, Peter, Tan, Tiong Y., Andrieux, Joris, Plessis, Ghislaine, Amor, David J., Keitges, Elisabeth A.

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Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1 : Four additional patients von Schiff, Manuel, Delahaye, Andrée, Andrieux, Joris, Sanlaville, Damien, Vincent-Delorme, Catherine, Aboura, Azzedine, Benzacken, Brigitte, Bouquillon, Sonia, Elmaleh-Berges, Monique, Labalme, Audrey, Passemard, Sandrine, Perrin, Laurence, Manouvrier-Hanu, Sylvie, Edery, Patrick, Verloes, Alain, Drunat, Séverine

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Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagno... von Richard, Nicolas, Leprince, Céline, Gruchy, Nicolas, Pigny, Pascal, Andrieux, Joris, Mittre, Hervé, Manouvrier, Sylvie, Lahlou, Najiba, Weill, Jacques, Kottler, Marie-Laure

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Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH von Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie‐Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco‐Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier‐Hanu, Sylvie, Holder‐Espinasse, Muriel

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5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects von Jaillard, Sylvie, Andrieux, Joris, Plessis, Ghislaine, Krepischi, Ana C.V., Lucas, Josette, David, Véronique, Le Brun, Marine, Bertola, Debora R., David, Albert, Belaud-Rotureau, Marc-Antoine, Mosser, Jean, Lazaro, Leila, Treguier, Catherine, Rosenberg, Carla, Odent, Sylvie, Dubourg, Christèle

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Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome von Copin, Henri, Mathieu-Dramard, Michèle, Andrieux, Joris, Receveur, Aline, Jedraszak, Guillaume, Morin, Gilles

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Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage von Perrin, Aurore, Ph.D, Delobel, Bruno, M.D, Andrieux, Joris, M.D., Ph.D, Gosset, Philippe, M.D, Gueganic, Nadia, B.Sc, Petit, Florence, M.D, De Braekeleer, Marc, M.D., Ph.D, Morel, Frédéric, Ph.D

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Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality von Sheth, Frenny J., Datar, Chaitanya, Andrieux, Joris, Pandit, Anand, Nayak, Darshana, Rahman, Mizanur, Sheth, Jayesh J.

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The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity von Maillard, A M, Ruef, A, Pizzagalli, F, Migliavacca, E, Hippolyte, L, Adaszewski, S, Dukart, J, Ferrari, C, Conus, P, Männik, K, Zazhytska, M, Siffredi, V, Maeder, P, Kutalik, Z, Kherif, F, Hadjikhani, N, Beckmann, J S, Reymond, A, Draganski, B, Jacquemont, S

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α-synuclein locus duplication as a cause of familial Parkinson's disease von Chartier-Harlin, Marie-Christine, Kachergus, Jennifer, Roumier, Christophe, Mouroux, Vincent, Douay, Xavier, Lincoln, Sarah, Levecque, Clotilde, Larvor, Lydie, Andrieux, Joris, Hulihan, Mary, Waucquier, Nawal, Defebvre, Luc, Amouyel, Philippe, Farrer, Matthew, Destée, Alain

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