Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
Wells, Constance F, Boursier, Guilaine, Yauy, Kevin, Ruiz-Pallares, Nathalie, Mechin, Déborah, Ruault, Valentin, Tharreau, Mylène, Blanchet, Patricia, Pinson, Lucile, Coubes, Christine, Fila, Marc, Baleine, Julien, Pidoux, Odile, Badr, Maliha, Milesi, Christophe, Cambonie, Gilles, Mesnage, Renaud, Dereure, Maëlle, Ardouin, Olivier, Guignard, Thomas, Geneviève, David, Barat-Houari, Mouna, Willems, Marjolaine
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
Get full text
Journal Article
Postnatal outcome of children with antenatal colonic hyperechogenicity
Fuchs, Florent, Rodriguez, Alexis, Mousty, Eve, Morin, Denis, Roubertie, Agathe, Wells, Constance F., Prodhomme, Olivier, Benoist, Jean‐François, Dreux, Sophie, Faure, Jean‐Michel, Willems, Marjolaine
Published in Prenatal diagnosis (01.01.2024)
Published in Prenatal diagnosis (01.01.2024)
Get full text
Journal Article
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
Tran Mau-Them, Frédéric, Delanne, Julian, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Bruel, Ange-Line, Vitobello, Antonio, Garde, Aurore, Nambot, Sophie, Bourgon, Nicolas, Racine, Caroline, Sorlin, Arthur, Moutton, Sébastien, Marle, Nathalie, Rousseau, Thierry, Sagot, Paul, Simon, Emmanuel, Vincent-Delorme, Catherine, Boute, Odile, Colson, Cindy, Petit, Florence, Legendre, Marine, Naudion, Sophie, Rooryck, Caroline, Prouteau, Clément, Colin, Estelle, Guichet, Agnès, Ziegler, Alban, Bonneau, Dominique, Morel, Godelieve, Fradin, Mélanie, Lavillaureix, Alinoé, Quelin, Chloé, Pasquier, Laurent, Odent, Sylvie, Vera, Gabriella, Goldenberg, Alice, Guerrot, Anne-Marie, Brehin, Anne-Claire, Putoux, Audrey, Attia, Jocelyne, Abel, Carine, Blanchet, Patricia, Wells, Constance F, Deiller, Caroline, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Isidor, Bertrand, Amiel, Jeanne, Dard, Rodolphe, Godin, Manon, Gruchy, Nicolas, Jeanne, Médéric, Schaeffer, Elise, Maillard, Pierre-Yves, Payet, Frédérique, Jacquemont, Marie-Line, Francannet, Christine, Sigaudy, Sabine, Bergot, Marine, Tisserant, Emilie, Ascencio, Marie-Laure, Binquet, Christine, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Frontiers in genetics (23.03.2023)
Published in Frontiers in genetics (23.03.2023)
Get full text
Journal Article
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
Get full text
Journal Article
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludwig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
Get full text
Journal Article
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
Yauy, Kevin, Schneider, Anouck, Ng, Bee Ling, Gaillard, Jean-Baptiste, Sati, Satish, Coubes, Christine, Wells, Constance, Tournaire, Magali, Guignard, Thomas, Bouret, Pauline, Geneviève, David, Puechberty, Jacques, Pellestor, Franck, Gatinois, Vincent
Published in BMC medical genomics (02.08.2019)
Published in BMC medical genomics (02.08.2019)
Get full text
Journal Article
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan S., Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
Get full text
Journal Article
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Testard, Quentin, Vanhoye, Xavier, Yauy, Kevin, Naud, Marie-Emmanuelle, Vieville, Gaelle, Rousseau, Francis, Dauriat, Benjamin, Marquet, Valentine, Bourthoumieu, Sylvie, Geneviève, David, Gatinois, Vincent, Wells, Constance, Willems, Marjolaine, Coubes, Christine, Pinson, Lucile, Dard, Rodolphe, Tessier, Aude, Hervé, Bérénice, Vialard, François, Harzallah, Ines, Touraine, Renaud, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Pichon, Olivier, Laudier, Béatrice, Mesnard, Laurent, Doreille, Alice, Busa, Tiffany, Missirian, Chantal, Satre, Véronique, Coutton, Charles, Celse, Tristan, Harbuz, Radu, Raymond, Laure, Taly, Jean-François, Thevenon, Julien
Published in Journal of medical genetics (01.12.2022)
Published in Journal of medical genetics (01.12.2022)
Get full text
Journal Article
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect
Boutaud, Lucile, Ruzzenente, Benedetta, Tessier, Aude, Anselem, Olivia, Pannier, Emmanuelle, Grotto, Sarah, Talhi, Naïma, Amram, Daniel, Willems, Marjolaine, Wells, Constance, Blanchet, Patricia, Musizzano, Yuri, Jauny, Clémence, Nitschke, Patrick, Bole-Feysot, Christine, Bessières, Bettina, Salhi, Houria, Achaiaa, Amale, Metodiev, Metodi D, Razavi, Ferechte, Rötig, Agnès, Loeuilllet, Laurence, Attié-Bitach, Tania
Published in Brain (London, England : 1878) (02.05.2023)
Published in Brain (London, England : 1878) (02.05.2023)
Get full text
Journal Article
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data
Lamouroux, Audrey, Dauge, Coralie, Wells, Constance, Mousty, Eve, Pinson, Lucile, Cavé, Hélène, Capri, Yline, Faure, Jean‐Michel, Grosjean, Frédéric, Sauvestre, Fanny, Attié‐Bitach, Tania, Pelluard, Fanny, Geneviève, David
Published in Prenatal diagnosis (01.05.2022)
Published in Prenatal diagnosis (01.05.2022)
Get full text
Journal Article
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
Racine, Caroline, Denommé-Pichon, Anne-Sophie, Engel, Camille, Tran Mau-them, Frederic, Bruel, Ange-Line, Vitobello, Antonio, Safraou, Hana, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Garde, Aurore, Colin, Estelle, Moutton, Sébastien, Thevenon, Julien, Jean-Marçais, Nolwenn, Willems, Marjolaine, Geneviève, David, Pinson, Lucile, Perrin, Laurence, Laffargue, Fanny, Lacaze, Elodie, Molin, Arnaud, Gerard, Marion, Lambert, Laetitia, Benigni, Charlotte, Patat, Olivier, Bourgeois, Valentin, Poe, Charlotte, Chevarin, Martin, Couturier, Victor, Philippe, Christophe, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel, Verloes, Alain, Goldenberg, Alice, Masurel, Alice, Vincent, Aline, Frances-Guidet, Anne-Marie, Laudier, Béatrice, Demeer, Bénédicte, Funalot, Benoit, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Poirsier, Céline, Dubucs, Charlotte, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Bansept, Claire, Wells, Constance, Goizet, Cyril, Mignot, Cyril, Amram, Daniel, Amsallem, Daniel, Lacombe, Didier, Martin-Coignard, Dominique, Schaefer, Elise, Guiliano, Fabienne, Prieur, Fabienne, Petit, Florence, Riccardi, Florence, Meloni, Francesca, Feillet, François, Guyader, Gwenael Le, Journel, Hubert, Coupier, Isabelle, Maystadt, Isabelle, Alessandri, Jean-Luc, Ruaud, Lyse, Jacquemont, Marie-Line, Bonnet-Dupeyron, Marie Noëlle, Lebrun, Marine, Spodenkiewicz, Marta, Renaud, Mathilde, Grelet, Maude, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Pujol, Pascal, Blanchet, Patricia, Kien, Philippe Khau Van, Parent, Philippe, Vabres, Pierre, Touraine, Renaud, Caumes, Roseline, Sigaudy, Sabine, Whalen, Sandra, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Julia, Sophie, Bertrand, Thierry Lavabre, Busa, Tiffany, Layet, Valérie, Bizaoui, Varoona, Trujillo, Yaumara Perdomo, Capri, Yline
Published in Journal of medical genetics (01.01.2024)
Published in Journal of medical genetics (01.01.2024)
Get full text
Journal Article
Use of Remifentanil Associated with Lidocaine for Feticides in Late Terminations of Pregnancy: A Randomized Clinical Trial
Rayssiguier, Romy, Fuchs, Florent, Mousty, Eve, Morau, Estelle, Hlioua, Tarik, Wells, Constance, Musizzano, Yuri, Nagot, Nicolas, Graf, Christelle, Legoux, Charles, Boulot, Pierre, Dumont, Coralie
Published in Fetal diagnosis and therapy (01.01.2021)
Published in Fetal diagnosis and therapy (01.01.2021)
Get more information
Journal Article
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders
Thauvin-Robinet, Christel, Garde, Aurore, Delanne, Julian, Racine, Caroline, Rousseau, Thierry, Simon, Emmanuel, François, Michel, Moutton, Sebastien, Sylvie, Odent, Quelin, Chloe, Morel, Godelieve, Goldenberg, Alice, Guerrot, Anne-Marie, Vera, Gabriella, Gruchy, Nicolas, Colson, Cindy, Boute, Odile, Abel, Carine, Putoux, Audrey, Amiel, Jeanne, Guichet, Agnes, Isidor, Bertrand, Deiller, Caroline, Wells, Constance, Rooryck, Caroline, Legendre, Marine, Francannet, Christine, Dard, Rodolphe, Sigaudy, Sabine, Bruel, Ange-Line, Safraou, Hana, Denommé-Pichon, Anne-Sophie, Nambot, Sophie, Asensio, Marie-Laure Humbert, Binquet, Christine, Duffourd, Yannis, Vitobello, Antonio, Philippe, Christophe, Faivre, Laurence, Tran-Mau-Them, Frédéric, Bourgon, Nicolas
Published in Prenatal diagnosis (13.08.2024)
Published in Prenatal diagnosis (13.08.2024)
Get full text
Journal Article
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
Get full text
Journal Article
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Lemattre, Camille, Imbert-Bouteille, Marion, Gatinois, Vincent, Benit, Paule, Sanchez, Elodie, Guignard, Thomas, Tran Mau-Them, Frédéric, Haquet, Emmanuelle, Rivier, François, Carme, Emilie, Roubertie, Agathe, Boland, Anne, Lechner, Doris, Meyer, Vincent, Thevenon, Julien, Duffourd, Yannis, Rivière, Jean-Baptiste, Deleuze, Jean-François, Wells, Constance, Molinari, Florence, Rustin, Pierre, Blanchet, Patricia, Geneviève, David
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
Get full text
Journal Article
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy
Chaussade, Amélie, Millot, Gaël, Wells, Constance, Brisse, Hervé, Laé, Marick, Savignoni, Alexia, Desjardins, Laurence, Dendale, Rémi, Doz, François, Aerts, Isabelle, Jimenez, Irène, Cassoux, Nathalie, Stoppa Lyonnet, Dominique, Gauthier Villars, Marion, Houdayer, Claude
Published in European journal of medical genetics (01.03.2019)
Published in European journal of medical genetics (01.03.2019)
Get full text
Journal Article
First fetal case of the 8q24.3 contiguous genes syndrome
Wells, Constance, Spaggiari, Emmanuel, Malan, Valérie, Stirnemann, Julien J., Attie-Bitach, Tania, Ville, Yves, Vekemans, Michel, Bessieres, Bettina, Romana, Serge
Published in American journal of medical genetics. Part A (01.01.2016)
Published in American journal of medical genetics. Part A (01.01.2016)
Get full text
Journal Article
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Doco-Fenzy, Martine, Poirsier, Céline, Spodenkiewicz, Marta, Lissy, Lola, Lannoy, Audrey, Shaefer, Elise, Chehadeh, Salima El, Amiel, Jeanne, Mignot, Cyril, Melki, Judith, Whalen, Sandra, Lackmy, Marilyn Irène, Funalot, Benoit, Morin, Gilles, Gérard, Marion, Gruchy, Nicolas, Molin, Arnaud, Toutain, Annick, Arpin, Stéphanie, Blesson, Sophie, Jeanne, Médéric, Isidor, Bertrand, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bonneau, Dominique, Colin, Estelle, Ziegler, Alban, Audebert-Bellanger, Séverine, Stoeva, Radka, Demurger, Florence, Thevenon, Julien, Francannet, Christine, Troude, Baptiste, Haye, Damien, Collignon, Patrick, Gilbert-Dussardier, Brigitte, Egloff, Mattieu, Le Guyader, Gwenaël, Letard, Pascaline, Sarrazin, Elisabeth, Giguet-Valard, Anna-Gaëlle, Damaj, Léna, Fradin, Mélanie, Lavillaureix, Alinoe, Jean-Marçais, Nolwenn, Morel, Godelieve, Quelin, Chloé, Naudion, Sophie, Legendre, Marine, Van-Gils, Julien, Rooryck-Thambo, Caroline, Boute, Odile, Dieux, Anne, Vincent-Delorme, Catherine, Ghoumid, Jamal, Vanlerberghe, Clémence, Caumes, Roseline, Colson, Cindy, Marsili, Luisa, Wyrebski, Antoine, Bellengier, Laurence, Houdayer, Françoise, Putoux, Audrey, Busa, Tiffany, Riccardi, Florence, Missirian, Chantal, Blanchet, Patricia, Haquet, Emmanuelle, Pinson, Lucile, Puechberty, Jacques, Wells, Constance, Capri, Yline, Perrin, Laurence, Passemard, Sandrine, Ruand, Lyse, Nambot, Sophie, Delanne, Julian, Moutton, Sébastien, Sorlin, Arthur, Lehalle, Daphné, Garde, Aurore
Published in Orphanet journal of rare diseases (04.08.2021)
Published in Orphanet journal of rare diseases (04.08.2021)
Get full text
Journal Article