Ngā hua rapu - Attie-Bitach, Tania 

Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2 mā Lamouroux, Audrey, Attie-Bitach, Tania, Martinovic, Jelena, Leruez-Ville, Marianne, Ville, Yves

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Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 mā Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege

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Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome mā Aguilar, Andrea, Meunier, Alice, Strehl, Laetitia, Martinovic, Jelena, Bonniere, Maryse, Attie-Bitach, Tania, Encha-Razavi, Féréchté, Spassky, Nathalie

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Pitchfork Regulates Primary Cilia Dizsassembly and Left-Right Asymmetry mā Kinzel, Doris, Boldt, Karsten, Davis, Erica E., Burtscher, Ingo, Trümbach, Dietrich, Diplas, Bill, Attié-Bitach, Tania, Wurst, Wolfgang, Katsanis, Nicholas, Ueffing, Marius, Lickert, Heiko

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Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients mā Abadie, Véronique, Hamiaux, Priscilla, Ragot, Stéphanie, Legendre, Marine, Malecot, Gaelle, Burtin, Alexia, Attie-Bitach, Tania, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Vaivre-Douret, Laurence

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Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development mā Chauvet, Véronique, Qian, Feng, Boute, Nicolas, Cai, Yiqiang, Phakdeekitacharoen, Bunyong, Onuchic, Luis F., Attié-Bitach, Tania, Guicharnaud, Liliane, Devuyst, Olivier, Germino, Gregory G., Gubler, Marie-Claire

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance mā Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie

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Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy mā Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence

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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 mā Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C. 

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A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus mā Beaufrère, Aurélie, Bessières, Bettina, Bonnière, Maryse, Driessen, Marine, Alfano, Christian, Couderc, Thérèse, Thiry, Marc, Thelen, Nicolas, Lecuit, Marc, Attié‐Bitach, Tania, Vekemans, Michel, Ville, Yves, Nguyen, Laurent, Leruez‐Ville, Marianne, Encha‐Razavi, Férechté

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Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH mā Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie-Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco-Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel

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Expanding CEP290 mutational spectrum in ciliopathies mā Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity mā Thomas, Sophie, Cantagrel, Vincent, Mariani, Laura, Serre, Valérie, Lee, Ji-Eun, Elkhartoufi, Nadia, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Lyonnet, Stanislas, Vekemans, Michel, Lisgo, Steven N, Caspary, Tamara, Gleeson, Joseph, Attié-Bitach, Tania

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 mā Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

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Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects mā Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel

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

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Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome mā 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.

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

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The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome mā Baala, Lekbir, Romano, Stéphane, Khaddour, Rana, Saunier, Sophie, Smith, Ursula M., Audollent, Sophie, Ozilou, Catherine, Faivre, Laurence, Laurent, Nicole, Foliguet, Bernard, Munnich, Arnold, Lyonnet, Stanislas, Salomon, Rémi, Encha-Razavi, Férechté, Gubler, Marie-Claire, Boddaert, Nathalie, Lonlay, Pascale de, Johnson, Colin A., Vekemans, Michel, Antignac, Corinne, Attié-Bitach, Tania

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease mā de Pontual, Loïc, Zaghloul, Norann A., Thomas, Sophie, Davis, Erica E., Mcgaughey, David M., Dollfus, Hélène, Baumann, Clarisse, Bessling, Seneca L., Babarit, Candice, Pelet, Anna, Gascue, Cecilia, Beales, Philip, Munnich, Arnold, Lyonnet, Stanislas, Etchevers, Heather, Attie-Bitach, Tania, Badano, Jose L., McCallion, Andrew S., Katsanis, Nicholas, Amiel, Jeanne

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