Update on oral-facial-digital syndromes (OFDS)

le Franco, Brunella, Thauvin-Robinet, Christel
Foilsithe in Cilia (2016)

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

le Maubaret, Cécilia, Kosmaoglou, Maria, Low, Sancy, Chakarova, Christina F., Bidot, Samuel, Thauvin-Robinet, Christel, Robson, Anthony G., Waseem, Naushin, Cheetham, Michael E., Bhattacharya, Shomi S.
Foilsithe 2012

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

le Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Foilsithe 2014

A Major Determinant for Binding and Aminoacylation of tRNA(Ala) in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

le Latour, Philippe, Thauvin-Robinet, Christel, Baudelet-Méry, Chantal, Soichot, Pierre, Cusin, Veronica, Faivre, Laurence, Locatelli, Marie-Claire, Mayençon, Martine, Sarcey, Annie, Broussolle, Emmanuel, Camu, William, David, Albert, Rousson, Robert
Foilsithe 2010

NOTCH, a new signaling pathway implicated in holoprosencephaly

le Dupé, Valérie, Rochard, Lucie, Mercier, Sandra, Le Pétillon, Yann, Gicquel, Isabelle, Bendavid, Claude, Bourrouillou, Georges, Kini, Usha, Thauvin-Robinet, Christel, Bohan, Timothy P., Odent, Sylvie, Dubourg, Christèle, David, Véronique
Foilsithe 2011

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

le Nicolas, Gaël, Jacquin, Agnès, Thauvin-Robinet, Christel, Rovelet-Lecrux, Anne, Rouaud, Olivier, Pottier, Cyril, Aubriot-Lorton, Marie-Hélène, Rousseau, Stéphane, Wallon, David, Duvillard, Christian, Béjot, Yannick, Frébourg, Thierry, Giroud, Maurice, Campion, Dominique, Hannequin, Didier
Foilsithe 2014

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

le Desch, Laurent, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Eliade, Marie, Payet, Muriel, Ragon, Clemence, Thevenon, Julien, Aral, Bernard, Ragot, Sylviane, Ardalan, Azarnouche, Dhouibi, Nabila, Bensignor, Candace, Thauvin-Robinet, Christel, El Chehadeh, Salima, Callier, Patrick
Foilsithe in Mol Cytogenet (2015)

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

le Writzl, Karin, Maver, Ales, Kovačič, Lidija, Martinez-Valero, Paula, Contreras, Laura, Satrustegui, Jorgina, Castori, Marco, Faivre, Laurence, Lapunzina, Pablo, van Kuilenburg, André B.P., Radović, Slobodanka, Thauvin-Robinet, Christel, Peterlin, Borut, del Arco, Araceli, Hennekam, Raoul C.
Foilsithe in Am J Hum Genet (2017)

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

le Lhussiez, Vincent, Dubus, Elisabeth, Cesar, Quénol, Acar, Niyazi, Nandrot, Emeline F., Simonutti, Manuel, Audo, Isabelle, Lizé, Eléonore, Nguyen, Sylvie, Geissler, Audrey, Bouchot, André, Ansar, Muhammad, Picaud, Serge, Thauvin-Robinet, Christel, Olivier-Faivre, Laurence, Duplomb, Laurence, Da Costa, Romain
Foilsithe in Invest Ophthalmol Vis Sci (2020)

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

le El Chehadeh-Djebbar, Salima, Blair, Edward, Holder-Espinasse, Muriel, Moncla, Anne, Frances, Anne-Marie, Rio, Marlène, Debray, François-Guillaume, Rump, Patrick, Masurel-Paulet, Alice, Gigot, Nadège, Callier, Patrick, Duplomb, Laurence, Aral, Bernard, Huet, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence
Foilsithe 2013

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

le Madariaga, Leire, Morinière, Vincent, Jeanpierre, Cécile, Bouvier, Raymonde, Loget, Philippe, Martinovic, Jelena, Dechelotte, Pierre, Leporrier, Nathalie, Thauvin-Robinet, Christel, Jensen, Uffe Birk, Gaillard, Dominique, Mathieu, Michele, Turlin, Bruno, Attie-Bitach, Tania, Salomon, Rémi, Gübler, Marie-Claire, Antignac, Corinne, Heidet, Laurence
Foilsithe 2013

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

le Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel
Foilsithe in Eur J Hum Genet (2019)

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

le Li, Chunmei, Jensen, Victor L., Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R., Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F., Blacque, Oliver E., Valente, Enza Maria, Leroux, Michel R.
Foilsithe in PLoS Biol (2016)

Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

le Thevenon, Julien, Duplomb, Laurence, Phadke, Shubha, Eguether, Thibaut, Saunier, Aline, Avila, Magali, Carmignac, Virginie, Bruel, Ange-Line, St-Onge, Judith, Duffourd, Yannis, Pazour, Gregory J., Franco, Brunella, Attie-Bitach, Tania, Masurel-Paulet, Alice, Rivière, Jean-Baptiste, Cormier-Daire, Valérie, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Foilsithe in Clin Genet (2016)

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

le 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
Foilsithe 2013

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

le Piton, Amélie, Poquet, Hélène, Redin, Claire, Masurel, Alice, Lauer, Julia, Muller, Jean, Thevenon, Julien, Herenger, Yvan, Chancenotte, Sophie, Bonnet, Marlène, Pinoit, Jean-Michel, Huet, Frédéric, Thauvin-Robinet, Christel, Jaeger, Anne-Sophie, Le Gras, Stéphanie, Jost, Bernard, Gérard, Bénédicte, Peoc'h, Katell, Launay, Jean-Marie, Faivre, Laurence, Mandel, Jean-Louis
Foilsithe 2014

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

le Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Foilsithe 2009

SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia

le Marelli, Cecilia, van de Leemput, Joyce, Johnson, Janel O, Tison, Francois, Thauvin-Robinet, Christel, Picard, Fabienne, Tranchant, Christine, Hernandez, Dena G, Huttin, Bernard, Boulliat, Jacques, Sangla, Iban, Marescaux, Christian, Brique, Serge, Dollfus, Hélène, Arepalli, Sampath, Benatru, Isabelle, Ollagnon, Elisabeth, Forlani, Sylvie, Hardy, John, Stevanin, Giovanni, Dürr, Alexandra, Singleton, Andrew, Brice, Alexis
Foilsithe 2011

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

le Thevenon, Julien, Souchay, Céline, Seabold, Gail K, Dygai-Cochet, Inna, Callier, Patrick, Gay, Sébastien, Corbin, Lucie, Duplomb, Laurence, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, El Chehadeh, Salima, Avila, Magali, Minot, Delphine, Guedj, Eric, Chancenotte, Sophie, Bonnet, Marlène, Lehalle, Daphne, Wang, Ya-Xian, Kuentz, Paul, Huet, Frédéric, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Petralia, Ronald S, Faivre, Laurence
Foilsithe in Eur J Hum Genet (2016)

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

le Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Foilsithe in Ann Clin Transl Neurol (2016)