Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

Por Philippi, Anne, Tores, Frédéric, Carayol, Jérome, Rousseau, Francis, Letexier, Mélanie, Roschmann, Elke, Lindenbaum, Pierre, Benajjou, Abdel, Fontaine, Karine, Vazart, Céline, Gesnouin, Philippe, Brooks, Peter, Hager, Jörg
Publicado em 2007

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

Por El Shamieh, Said, Boulanger-Scemama, Elise, Lancelot, Marie-Elise, Antonio, Aline, Démontant, Vanessa, Condroyer, Christel, Letexier, Mélanie, Saraiva, Jean-Paul, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Publicado no Biomed Res Int (2015)

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Por Audo, Isabelle, Bujakowska, Kinga M, Léveillard, Thierry, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Germain, Aurore, Antonio, Aline, Michiels, Christelle, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Publicado em 2012

CRB1 mutations in inherited retinal dystrophies

Por Bujakowska, Kinga, Audo, Isabelle, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Léveillard, Thierry, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicado em 2011

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Por Boulanger-Scemama, Elise, El Shamieh, Said, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Souied, Eric, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publicado no Orphanet J Rare Dis (2015)

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Por Méjécase, Cécile, Laurent-Coriat, Caroline, Mayer, Claudine, Poch, Olivier, Mohand-Saïd, Saddek, Prévot, Camille, Antonio, Aline, Boyard, Fiona, Condroyer, Christel, Michiels, Christelle, Blanchard, Steven, Letexier, Mélanie, Saraiva, Jean-Paul, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Publicado no PLoS One (2016)

Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma

Por Guichard, Cécile, Amaddeo, Giuliana, Imbeaud, Sandrine, Ladeiro, Yannick, Pelletier, Laura, Maad, Ichrafe Ben, Calderaro, Julien, Bioulac-Sage, Paulette, Letexier, Mélanie, Degos, Françoise, Clément, Bruno, Balabaud, Charles, Chevet, Eric, Laurent, Alexis, Couchy, Gabrielle, Letouzé, Eric, Calvo, Fabien, Zucman-Rossi, Jessica
Publicado em 2012

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

Por El Shamieh, Said, Neuillé, Marion, Terray, Angélique, Orhan, Elise, Condroyer, Christel, Démontant, Vanessa, Michiels, Christelle, Antonio, Aline, Boyard, Fiona, Lancelot, Marie-Elise, Letexier, Mélanie, Saraiva, Jean-Paul, Léveillard, Thierry, Mohand-Saïd, Saddek, Goureau, Olivier, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publicado em 2014

Wild-type AAV Insertions in Hepatocellular Carcinoma Do Not Inform Debate Over Genotoxicity Risk of Vectorized AAV

Por Nault, Jean-Charles, Mami, Iadh, La Bella, Tiziana, Datta, Shalini, Imbeaud, Sandrine, Franconi, Andrea, Mallet, Maxime, Couchy, Gabrielle, Letouzé, Eric, Pilati, Camilla, Verret, Benjamin, Blanc, Jean-Frédéric, Balabaud, Charles, Calderaro, Julien, Laurent, Alexis, Letexier, Mélanie, Bioulac-Sage, Paulette, Calvo, Fabien, Zucman-Rossi, Jessica
Publicado no Mol Ther (2016)

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Por Zeitz, Christina, Jacobson, Samuel G., Hamel, Christian P., Bujakowska, Kinga, Neuillé, Marion, Orhan, Elise, Zanlonghi, Xavier, Lancelot, Marie-Elise, Michiels, Christelle, Schwartz, Sharon B., Bocquet, Béatrice, Antonio, Aline, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Luu, Tien D., Sennlaub, Florian, Nguyen, Hoan, Poch, Olivier, Dollfus, Hélène, Lecompte, Odile, Kohl, Susanne, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle
Publicado em 2013

Functional variants of POC5 identified in patients with idiopathic scoliosis

Por Patten, Shunmoogum A., Margaritte-Jeannin, Patricia, Bernard, Jean-Claude, Alix, Eudeline, Labalme, Audrey, Besson, Alicia, Girard, Simon L., Fendri, Khaled, Fraisse, Nicolas, Biot, Bernard, Poizat, Coline, Campan-Fournier, Amandine, Abelin-Genevois, Kariman, Cunin, Vincent, Zaouter, Charlotte, Liao, Meijiang, Lamy, Raphaelle, Lesca, Gaetan, Menassa, Rita, Marcaillou, Charles, Letexier, Melanie, Sanlaville, Damien, Berard, Jerome, Rouleau, Guy A., Clerget-Darpoux, Françoise, Drapeau, Pierre, Moldovan, Florina, Edery, Patrick
Publicado no J Clin Invest (2015)

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Por Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Publicado no Eur J Hum Genet (2016)

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Por Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne, Luu, Tien D., Lecompte, Odile, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Sharon, Dror, Banin, Eyal, Jacobson, Samuel G., Bonneau, Dominique, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicado em 2012

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Por Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne, Luu, Tien D., Lecompte, Odile, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Sharon, Dror, Banin, Eyal, Jacobson, Samuel G., Bonneau, Dominique, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicado em 2012