Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

by Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege
Published 2012

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

by Chafai-Elalaoui, Siham, Chalon, Matthias, Elkhartoufi, Nadia, Kriouele, Yamna, Mansouri, Maria, Attié-Bitach, Tania, Sefiani, Abdelaziz, Baala, Lekbir
Published 2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

by Perrault, Isabelle, Halbritter, Jan, Porath, Jonathan D, Gérard, Xavier, Braun, Daniela A, Gee, Heon Yung, Fathy, Hanan M, Saunier, Sophie, Cormier-Daire, Valérie, Thomas, Sophie, Attié-Bitach, Tania, Boddaert, Nathalie, Taschner, Michael, Schueler, Markus, Lorentzen, Esben, Lifton, Richard P, Lawson, Jennifer A, Garfa-Traore, Meriem, Otto, Edgar A, Bastin, Philippe, Caillaud, Catherine, Kaplan, Josseline, Rozet, Jean-Michel, Hildebrandt, Friedhelm
Published 2015

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

by Roberson, Elle C., Dowdle, William E., Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R., Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D., Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A., Saunier, Sophie, Otto, Edgar A., Katsanis, Nicholas, Davis, Erica E., Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R., Reiter, Jeremy F.
Published 2015

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

by Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie
Published 2016

Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome

by Van Nostrand, Jeanine L., Brady, Colleen A., Jung, Heiyoun, Fuentes, Daniel R., Kozak, Margaret M., Johnson, Thomas M., Lin, Chieh-Yu, Lin, Chien-Jung, Swiderski, Donald L., Vogel, Hannes, Bernstein, Jonathan A., Attié-Bitach, Tania, Chang, Ching-Pin, Wysocka, Joanna, Martin, Donna M., Attardi, Laura D.
Published 2014

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

by Lee, Ji Eun, Silhavy, Jennifer L., Zaki, Maha S., Schroth, Jana, Bielas, Stephanie L., Marsh, Sarah E., Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M., Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V., Glass, Ian A., Cluckey, Andrew, Louie, Carrie M., Lee, Jeong Ho, Raynes, Hilary R., Rapin, Isabelle, Castroviejo, Ignacio P., Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F., Hildebrandt, Friedhelm, Johnson, Colin A., Doherty, Daniel A., Valente, Enza Maria, Gleeson, Joseph G.
Published 2012

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

by Thauvin-Robinet, Christel, Lee, Jaclyn S., Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral, Bernard, Lopes, Carla A.M., St-Onge, Judith, Bruel, Ange-Line, Thevenon, Julien, González-Granero, Susana, Alby, Caroline, Munnich, Arnold, Vekemans, Michel, Huet, Frédéric, Fry, Andrew M., Saunier, Sophie, Rivière, Jean-Baptiste, Attié-Bitach, Tania, Garcia-Verdugo, Jose Manuel, Faivre, Laurence, Mégarbané, André, Nachury, Maxence V.
Published 2014

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

by Davis, Erica E., Zhang, Qi, Liu, Qin, Diplas, Bill H., Davey, Lisa M., Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V., Muzny, Donna M., Young, Alice C., Wheeler, David A., Cruz, Pedro, Morgan, Margaret, Lewis, Lora R., Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F., Mullikin, James C., Blakesley, Robert W., Bouffard, Gerard G., Gyapay, Gabor, Reiger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A., Neuhaus, Thomas J., Swoboda, Kathryn J., Kayserili, Hulya, Gallagher, Tomas E., Lewis, Richard A., Bergmann, Carsten, Otto, Edgar A., Saunier, Sophie, Scambler, Peter J., Beales, Philip L., Gleeson, Joseph G., Maher, Eamonn R., Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A., Green, Eric D., Gibbs, Richard A., Hildebrandt, Friedhelm, Pierce, Eric A., Katsanis, Nicholas
Published 2011