Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

by Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, Collins, D. Louis
Published in NeuroImage (Orlando, Fla.)

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

by El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée
Published in European journal of human genetics : EJHG

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1 : Four additional patients

by 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
Published in European journal of medical genetics

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

by Martin-Brevet, Sandra, Nielsen, Jared A., Maillard, Anne M., Richetin, Sonia, Jønch, Aia E., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujat, Geneviève, Sloan-Béna, Frédérique, Belfiore, Marco, Bouquillon, Sonia, Brusco, Alfredo, Busa, Tiffany, Cordier, Marie-Pierre, David, Albert, Edery, Patrick, Fagerberg, Christina, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Jacquette, Aurélia, Jaillard, Sylvie, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Pilekær Sørensen, Kristina, Pinson, Lucile, Prieur, Fabienne, Rooryck-Thambo, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Ackerman, Sean, Anwar, Ayesha, Bowe, Alexandra, Berg, Jessica, Berman, Jeffrey, Berry, Leandra N., Blaskey, Lisa, Burko, Jordan, Chang, Yishin, Cheong, Maxwell, Chudnovskaya, Darina, Cornew, Lauren, Dale, Corby, Dempsey, Allison G., Earl, Rachel, Edgar, James, Fischbach, Gerald D., Fregeau, Brieana, Gaetz, Leah, Garza, Silvia, Gerdts, Jennifer, Glenn, Orit, Golembski, Rachel, Greenup, Marion, Hines, Katherine, Jenkins, Julian, Jeremy, Rita J., Kessler, Sudha, Khan, Sarah Y., Ku, Matthew, Laakman, Anna L., Lam, Peter, LaGuerre, Kevin, Llorens, Ashlie V., Campe, Katherine Loftus, Luks, Tracy L., McNally Keehn, Rebecca, Moss, Timothy J., Nagarajan, Srikantan S., Paal, Andrea M., Packer, Alan, Paul, Brianna M., Poduri, Annapurna, Pojman, Nicholas J., Porche, Ken, Proud, Monica B., Ramocki, Melissa B., Reilly, Beau, Roberts, Timothy P.L., Gallagher, Anne Snow, Thieu, Tony, Triantafallou, Christina, Vaughan, Roger, Wakahiro, Mari, Wallace, Arianne, Ward, Tracey, Wenegrat, Julia, Sherr, Elliott H., Spiro, John E., Kherif, Ferath, Hadjikhani, Nouchine, Reymond, Alexandre, Buckner, Randy L.
Published in Biological psychiatry (1969)

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

by Smol, Thomas, Thuillier, Caroline, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Duban-Bedu, Bénédicte, Caumes, Roseline, Bouquillon, Sonia, Manouvrier-Hanu, Sylvie, Roche-Lestienne, Catherine, Ghoumid, Jamal
Published in Neurogenetics

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

by Reinthaler, Eva M, Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S, Dahl, Hans-Henrik M, Regan, Brigid M, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M, Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J, Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R, Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E, Berkovic, Samuel F, Beckmann, Jacques S, Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A
Published in Human molecular genetics

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

by Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C, Harewood, Louise, Kosmicki, Jack A, Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M, Alfaiz, Ali Abdullah, van Haelst, Mieke M, Andrieux, Joris, Gusella, James F, Daly, Mark J, Beckmann, Jacques S, Jacquemont, Sébastien, Talkowski, Michael E, Katsanis, Nicholas, Reymond, Alexandre
Published in American journal of human genetics

Effects of eight neuropsychiatric copy number variants on human brain structure

by Modenato, Claudia, Kumar, Kuldeep, Moreau, Clara, Martin-Brevet, Sandra, Huguet, Guillaume, Schramm, Catherine, Jean-Louis, Martineau, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Douard, Elise, Thébault-Dagher, Fanny, Côté, Valérie, Charlebois, Audrey-Rose, Deguire, Florence, Maillard, Anne M, Rodriguez-Herreros, Borja, Pain, Aurèlie, Richetin, Sonia, Melie-Garcia, Lester, Kushan, Leila, Silva, Ana I, van den Bree, Marianne B M, Linden, David E J, Owen, Michael J, Hall, Jeremy, Lippé, Sarah, Chakravarty, Mallar, Bzdok, Danilo, Bearden, Carrie E, Draganski, Bogdan, Jacquemont, Sébastien
Published in Translational psychiatry

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
Published in European journal of human genetics : EJHG

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

by Vanlerberghe, Clémence, Petit, Florence, Malan, Valérie, Vincent-Delorme, Catherine, Bouquillon, Sonia, Boute, Odile, Holder-Espinasse, Muriel, Delobel, Bruno, Duban, Bénédicte, Vallee, Louis, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Vantyghem, Marie-Christine, Pigeyre, Marie, Lanco-Dosen, Sandrine, Plessis, Ghislaine, Gerard, Marion, Decamp, Matthieu, Mathieu, Michèle, Morin, Gilles, Jedraszak, Guillaume, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Fauvert, Delphine, Roume, Joëlle, Cormier-Daire, Valérie, Caumes, Roseline, Puechberty, Jacques, Genevieve, David, Sarda, Pierre, Pinson, Lucie, Blanchet, Patricia, Lemeur, Nathalie, Sheth, Frenny, Manouvrier-Hanu, Sylvie, Andrieux, Joris
Published in European journal of medical genetics

ELN gene triplication responsible for familial supravalvular aortic aneurysm

by Guemann, Anne-Sophie, Andrieux, Joris, Petit, Florence, Halimi, Emmanuel, Bouquillon, Sonia, Manouvrier-Hanu, Sylvie, Van De Kamp, Jiddeke, Boileau, Catherine, Hanna, Nadine, Jondeau, Guillaume, Vaksmann, Guy, Houfflin-Debarge, Veronique, Holder-Espinasse, Muriel
Published in Cardiology in the young

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

by Petit, Florence, Andrieux, Joris, Holder-Espinasse, Muriel, Bouquillon, Sonia, Pennaforte, Thomas, Storme, Laurent, Manouvrier-Hanu, Sylvie
Published in European journal of medical genetics

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay

by Bouquillon, Sonia, Andrieux, Joris, Landais, Emilie, Duban-Bedu, Bénédicte, Boidein, Françoise, Lenne, Bruno, Vallée, Louis, Leal, Teresinha, Doco-Fenzy, Martine, Delobel, Bruno
Published in European journal of medical genetics

A 5.3 Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay

by Bouquillon, Sonia, Andrieux, Joris, Landais, Emilie, Duban-Bedu, Bénédicte, Boidein, Françoise, Lenne, Bruno, Vallée, Louis, Leal, Teresinha, Doco-Fenzy, Martine, Delobel, Bruno
Published in European journal of medical genetics

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

by Srebniak, Malgorzata I, van Zutven, Laura J C M, Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P J, Knapen, Maarten F C M, Cornette, Jerome M J, Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E M
Published in Molecular cytogenetics

Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic fe...

by Leal, Teresinha, Andrieux, Joris, Duban-Bedu, Bénédicte, Bouquillon, Sonia, Brevière, Georges-Marie, Delobel, Bruno
Published in European journal of medical genetics

Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic fea...

by Leal, Teresinha, Andrieux, Joris, Duban-Bedu, Bénédicte, Bouquillon, Sonia, Brevière, Georges-Marie, Delobel, Bruno
Published in European journal of medical genetics

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

by Srebniak, Malgorzata I, van Zutven, Laura J C M, Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P J, Knapen, Maarten F C M, Cornette, Jerome M J, Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E M
Published in Molecular cytogenetics

Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic fea...

by Leal, Teresinha, Andrieux, Joris, Duban-Bedu, Bénédicte, Bouquillon, Sonia, Brevière, Georges-Marie, Delobel, Bruno
Published in European journal of medical genetics