Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

по Brooks, Peter, Marcaillou, Charles, Vanpeene, Maud, Saraiva, Jean-Paul, Stockholm, Daniel, Francke, Stephan, Favis, Reyna, Cohen, Nadine, Rousseau, Francis, Tores, Frédéric, Lindenbaum, Pierre, Hager, Jörg, Philippi, Anne
Опубликовано 2009

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

по 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
Опубликовано в: Biomed Res Int (2015)

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

по 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
Опубликовано 2012

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

по Boulanger-Scemama, Elise, Mohand-Saïd, Saddek, El Shamieh, Said, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Опубликовано в: Int J Mol Sci (2019)

CRB1 mutations in inherited retinal dystrophies

по 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
Опубликовано 2011

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

по 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
Опубликовано в: Orphanet J Rare Dis (2015)

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

по 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
Опубликовано в: PLoS One (2016)

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

по 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
Опубликовано 2014

WDR34, a candidate gene for non-syndromic rod-cone dystrophy

по Solaguren-Beascoa, Maria, Bujakowska, Kinga M., Méjécase, Cécile, Emmenegger, Lisa, Orhan, Elise, Neuillé, Marion, Mohand-Saïd, Saddek, Condroyer, Christel, Lancelot, Marie-Elise, Michiels, Christelle, Demontant, Vanessa, Antonio, Aline, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Léveillard, Thierry, Pierce, Eric A., Dollfus, Hélène, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle, Zeitz, Christina
Опубликовано в: Clin Genet (2020)

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

по Depienne, Christel, Bouteiller, Delphine, Méneret, Aurélie, Billot, Ségolène, Groppa, Sergiu, Klebe, Stephan, Charbonnier-Beaupel, Fanny, Corvol, Jean-Christophe, Saraiva, Jean-Paul, Brueggemann, Norbert, Bhatia, Kailash, Cincotta, Massimo, Brochard, Vanessa, Flamand-Roze, Constance, Carpentier, Wassila, Meunier, Sabine, Marie, Yannick, Gaussen, Marion, Stevanin, Giovanni, Wehrle, Rosine, Vidailhet, Marie, Klein, Christine, Dusart, Isabelle, Brice, Alexis, Roze, Emmanuel
Опубликовано 2012

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

по 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
Опубликовано 2013

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

по 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
Опубликовано 2012

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

по 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
Опубликовано 2012