Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study

অনুযায়ী Senat, Marie-Victoire, Bussières, Laurence, Couderc, Sophie, Roume, Joelle, Rozenberg, Patrick, Bouyer, Jean, Ville, Yves
প্রকাশিত 2007

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

অনুযায়ী Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, Stavit A., Superti-Furga, Andrea, Delezoide, Anne-Lise, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
প্রকাশিত 2013

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

অনুযায়ী Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile
প্রকাশিত 2014

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

অনুযায়ী Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile
প্রকাশিত 2014

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

অনুযায়ী Aubart, Mélodie, Gobert, Delphine, Aubart-Cohen, Fleur, Detaint, Delphine, Hanna, Nadine, d’Indya, Hyacintha, Lequintrec, Janine-Sophie, Renard, Philippe, Vigneron, Anne-Marie, Dieudé, Philippe, Laissy, Jean-Pierre, Koch, Pierre, Muti, Christine, Roume, Joelle, Cusin, Veronica, Grandchamp, Bernard, Gouya, Laurent, LeGuern, Eric, Papo, Thomas, Boileau, Catherine, Jondeau, Guillaume
প্রকাশিত 2014

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

অনুযায়ী El Malti, Rajae, Liu, Hui, Doray, Bérénice, Thauvin, Christel, Maltret, Alice, Dauphin, Claire, Gonçalves-Rocha, Miguel, Teboul, Michel, Blanchet, Patricia, Roume, Joëlle, Gronier, Céline, Ducreux, Corinne, Veyrier, Magali, Marçon, François, Acar, Philippe, Lusson, Jean-René, Levy, Marilyne, Beyler, Constance, Vigneron, Jacqueline, Cordier-Alex, Marie-Pierre, Heitz, François, Sanlaville, Damien, Bonnet, Damien, Bouvagnet, Patrice
প্রকাশিত Eur J Hum Genet (2016)

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

অনুযায়ী Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile
প্রকাশিত J Am Soc Nephrol (2017)

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

অনুযায়ী Reilly, Madeline Louise, Stokman, Marijn F, Magry, Virginie, Jeanpierre, Cecile, Alves, Marine, Paydar, Mohammadjavad, Hellinga, Jacqueline, Delous, Marion, Pouly, Daniel, Failler, Marion, Martinovic, Jelena, Loeuillet, Laurence, Leroy, Brigitte, Tantau, Julia, Roume, Joelle, Gregory-Evans, Cheryl Y, Shan, Xianghong, Filges, Isabel, Allingham, John S, Kwok, Benjamin H, Saunier, Sophie, Giles, Rachel H, Benmerah, Alexandre
প্রকাশিত Hum Mol Genet (2019)

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

অনুযায়ী Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne
প্রকাশিত Mol Genet Metab (2015)

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

অনুযায়ী Mougou-Zerelli, Soumaya, Thomas, Sophie, Szenker, Emmanuelle, Audollent, Sophie, Elkhartoufi, Nadia, Babarit, Candice, Romano, Stéphane, Salomon, Rémi, Amiel, Jeanne, Esculpavit, Chantal, Gonzales, Marie, Escudier, Estelle, Leheup, Bruno, Loget, Philippe, Odent, Sylvie, Roume, Joëlle, Gérard, Marion, Delezoide, Anne-Lise, Khung, Suonavy, Patrier, Sophie, Cordier, Marie-Pierre, Bouvier, Raymonde, Martinovic, Jéléna, Gubler, Marie-Claire, Boddaert, Nathalie, Munnich, Arnold, Encha-Razavi, Férechté, Valente, Enza Maria, Saad, Ali, Saunier, Sophie, Vekemans, Michel, Attié-Bitach, Tania
প্রকাশিত 2009

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

অনুযায়ী Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain
প্রকাশিত Eur J Hum Genet (2016)

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

অনুযায়ী De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile
প্রকাশিত Am J Hum Genet (2017)

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

অনুযায়ী Baala, Lekbir , Audollent, Sophie , Martinovic, Jéléna , Ozilou, Catherine , Babron, Marie-Claude , Sivanandamoorthy, Sivanthiny , Saunier, Sophie , Salomon, Rémi , Gonzales, Marie , Rattenberry, Eleanor , Esculpavit, Chantal , Toutain, Annick , Moraine, Claude , Parent, Philippe , Marcorelles, Pascale , Dauge, Marie-Christine , Roume, Joëlle , Merrer, Martine Le , Meiner, Vardiella , Meir, Karen , Menez, Françoise , Beaufrère, Anne-Marie , Francannet, Christine , Tantau, Julia , Sinico, Martine , Dumez, Yves , MacDonald, Fiona , Munnich, Arnold , Lyonnet, Stanislas , Gubler, Marie-Claire , Génin, Emmanuelle , Johnson, Colin A. , Vekemans, Michel , Encha-Razavi, Férechté , Attié-Bitach, Tania 
প্রকাশিত 2007

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

অনুযায়ী Valente, Enza Maria, Logan, Clare V., Mougou-Zerelli, Soumaya, Lee, Jeong Ho, Silhavy, Jennifer L., Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Romani, Sveva, Illi, Barbara, Adams, Matthew, Szymanska, Katarzyna, Mazzotta, Annalisa, Lee, Ji Eun, Tolentino, Jerlyn C., Swistun, Dominika, Salpietro, Carmelo D., Fede, Carmelo, Gabriel, Stacey, Russ, Carsten, Cibulskis, Kristian, Sougnez, Carrie, Hildebrandt, Friedhelm, Otto, Edgar A., Held, Susanne, Diplas, Bill H., Davis, Erica, Mikula, Mario, Strom, Charles M., Ben-Ze’ev, Bruria, Lev, Dorit, Sagie, Tally Lerman, Michelson, Marina, Yaron, Yuval, Krause, Amanda, Boltshauser, Eugen, Elkhartoufi, Nadia, Roume, Joelle, Shalev, Stavit, Munnich, Arnold, Saunier, Sophie, Inglehearn, Chris, Saad, Ali, Alkindy, Adila, Thomas, Sophie, Vekemans, Michel, Dallapiccola, Bruno, Katsanis, Nicholas, Johnson, Colin A., Attié-Bitach, Tania, Gleeson, Joseph G.
প্রকাশিত 2010

New insights into genotype–phenotype correlation for GLI3 mutations

অনুযায়ী Démurger, Florence, Ichkou, Amale, Mougou-Zerelli, Soumaya, Le Merrer, Martine, Goudefroye, Géraldine, Delezoide, Anne-Lise, Quélin, Chloé, Manouvrier, Sylvie, Baujat, Geneviève, Fradin, Mélanie, Pasquier, Laurent, Megarbané, André, Faivre, Laurence, Baumann, Clarisse, Nampoothiri, Sheela, Roume, Joëlle, Isidor, Bertrand, Lacombe, Didier, Delrue, Marie-Ange, Mercier, Sandra, Philip, Nicole, Schaefer, Elise, Holder, Muriel, Krause, Amanda, Laffargue, Fanny, Sinico, Martine, Amram, Daniel, André, Gwenaelle, Liquier, Alain, Rossi, Massimiliano, Amiel, Jeanne, Giuliano, Fabienne, Boute, Odile, Dieux-Coeslier, Anne, Jacquemont, Marie-Line, Afenjar, Alexandra, Van Maldergem, Lionel, Lackmy-Port-Lis, Marylin, Vincent- Delorme, Catherine, Chauvet, Marie-Liesse, Cormier-Daire, Valérie, Devisme, Louise, Geneviève, David, Munnich, Arnold, Viot, Géraldine, Raoul, Odile, Romana, Serge, Gonzales, Marie, Encha-Razavi, Ferechte, Odent, Sylvie, Vekemans, Michel, Attie-Bitach, Tania
প্রকাশিত Eur J Hum Genet (2015)

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

অনুযায়ী Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
প্রকাশিত Hum Genet (2017)

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

অনুযায়ী Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
প্রকাশিত Genet Med (2018)

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

অনুযায়ী Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M., Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
প্রকাশিত Genet Med (2018)