Copy number variation goes clinical

od Le Caignec, Cédric, Redon, Richard
Izdano 2009

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis

od Le Caignec, Cédric, Kwiatkowski, David J, Küry, Sébastien, Hardouin, Jean-Benoit, Melki, Judith, David, Albert
Izdano 2009

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

od Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn
Izdano u Eur J Hum Genet (2015)

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

od Vincent, Marie, Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł
Izdano u Am J Respir Crit Care Med (2019)

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

od Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan
Izdano 2010

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

od Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel
Izdano 2011

Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma

od Le Nail, Louis-Romée, Brennan, Meadhbh, Rosset, Philippe, Deschaseaux, Frédéric, Piloquet, Philippe, Pichon, Olivier, Le Caignec, Cédric, Crenn, Vincent, Layrolle, Pierre, Hérault, Olivier, De Pinieux, Gonzague, Trichet, Valérie
Izdano u Int J Mol Sci (2018)

Single-cell chromosomal imbalances detection by array CGH

od Le Caignec, Cedric, Spits, Claudia, Sermon, Karen, De Rycke, Martine, Thienpont, Bernard, Debrock, Sophie, Staessen, Catherine, Moreau, Yves, Fryns, Jean-Pierre, Van Steirteghem, Andre, Liebaers, Inge, Vermeesch, Joris R.
Izdano 2006

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

od Leppa, Virpi M., Kravitz, Stephanie N., Martin, Christa Lese, Andrieux, Joris, Le Caignec, Cedric, Martin-Coignard, Dominique, DyBuncio, Christina, Sanders, Stephan J., Lowe, Jennifer K., Cantor, Rita M., Geschwind, Daniel H.
Izdano u Am J Hum Genet (2016)

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

od Tokita, Mari J, Chow, Penny M, Mirzaa, Ghayda, Dikow, Nicola, Maas, Bianca, Isidor, Bertrand, Le Caignec, Cédric, Penney, Lynette S, Mazzotta, Giovanni, Bernardini, Laura, Filippi, Tiziana, Battaglia, Agatino, Donti, Emilio, Earl, Dawn, Prontera, Paolo
Izdano u Eur J Hum Genet (2015)

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

od Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric
Izdano 2013

Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13

od Isidor, Bertrand, Pichon, Olivier, Redon, Richard, Day-Salvatore, Debra, Hamel, Antoine, Siwicka, Karolina A., Bitner-Glindzicz, Maria, Heymann, Dominique, Kjellén, Lena, Kraus, Cornelia, Leroy, Jules G., Mortier, Geert R., Rauch, Anita, Verloes, Alain, David, Albert, Le Caignec, Cédric
Izdano 2010

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

od Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W., Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica
Izdano u Eur J Hum Genet (2019)

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

od Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick
Izdano u Eur J Hum Genet (2019)

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

od Pearlman, Alexander, Loke, Johnny, Le Caignec, Cedric, White, Stefan, Chin, Lisa, Friedman, Andrew, Warr, Nicholas, Willan, John, Brauer, David, Farmer, Charles, Brooks, Eric, Oddoux, Carole, Riley, Bridget, Shajahan, Shahin, Camerino, Giovanna, Homfray, Tessa, Crosby, Andrew H., Couper, Jenny, David, Albert, Greenfield, Andy, Sinclair, Andrew, Ostrer, Harry
Izdano 2010

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

od Thevenon, Julien, Callier, Patrick, Andrieux, Joris, Delobel, Bruno, David, Albert, Sukno, Sylvie, Minot, Delphine, Mosca Anne, Laure, Marle, Nathalie, Sanlaville, Damien, Bonnet, Marlène, Masurel-Paulet, Alice, Levy, Fabienne, Gaunt, Lorraine, Farrell, Sandra, Le Caignec, Cédric, Toutain, Annick, Carmignac, Virginie, Mugneret, Francine, Clayton-Smith, Jill, Thauvin-Robinet, Christel, Faivre, Laurence
Izdano 2013

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

od Le Gall, Jessica, Nizon, Mathilde, Pichon, Olivier, Andrieux, Joris, Audebert-Bellanger, Séverine, Baron, Sabine, Beneteau, Claire, Bilan, Frédéric, Boute, Odile, Busa, Tiffany, Cormier-Daire, Valérie, Ferec, Claude, Fradin, Mélanie, Gilbert-Dussardier, Brigitte, Jaillard, Sylvie, Jønch, Aia, Martin-Coignard, Dominique, Mercier, Sandra, Moutton, Sébastien, Rooryck, Caroline, Schaefer, Elise, Vincent, Marie, Sanlaville, Damien, Le Caignec, Cédric, Jacquemont, Sébastien, David, Albert, Isidor, Bertrand
Izdano u Eur J Hum Genet (2017)

Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

od Kilens, Stéphanie, Meistermann, Dimitri, Moreno, Diego, Chariau, Caroline, Gaignerie, Anne, Reignier, Arnaud, Lelièvre, Yohann, Casanova, Miguel, Vallot, Céline, Nedellec, Steven, Flippe, Léa, Firmin, Julie, Song, Juan, Charpentier, Eric, Lammers, Jenna, Donnart, Audrey, Marec, Nadège, Deb, Wallid, Bihouée, Audrey, Le Caignec, Cédric, Pecqueur, Claire, Redon, Richard, Barrière, Paul, Bourdon, Jérémie, Pasque, Vincent, Soumillon, Magali, Mikkelsen, Tarjei S., Rougeulle, Claire, Fréour, Thomas, David, Laurent
Izdano u Nat Commun (2018)

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

od Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-Ange, Toutain, Annick, Paubel, Agathe, Mugneret, Francine, Thauvin-Robinet, Christel, Arpin, Stéphanie, Le Caignec, Cedric, Jonveaux, Philippe, Beri, Mylène, Leporrier, Nathalie, Motte, Jacques, Fiquet, Caroline, Brichet, Olivier, Mozelle-Nivoix, Monique, Sabouraud, Pascal, Golovkine, Nathalie, Bednarek, Nathalie, Gaillard, Dominique, Doco-Fenzy, Martine
Izdano 2013

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

od Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
Izdano u J Med Genet (2019)