Description of a late miscarriage case at 16 Weeks of Gestation associated with a SARS-CoV-2 infection

od Michel, Anne-Sophie, De Logiviere, Victoire, Schnuriger, Aurélie, Lefebvre, Mathilde, Maisonneuve, Emeline, Kayem, Gilles
Izdano u J Gynecol Obstet Hum Reprod (2021)

Selective mitochondrial DNA degradation following double-strand breaks

od Moretton, Amandine, Morel, Frédéric, Macao, Bertil, Lachaume, Philippe, Ishak, Layal, Lefebvre, Mathilde, Garreau-Balandier, Isabelle, Vernet, Patrick, Falkenberg, Maria, Farge, Géraldine
Izdano u PLoS One (2017)

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

od Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra, Sanlaville, Damien, Villeneuve, Nathalie, Darmency-Stamboul, Véronique, Toutain, Annick, Lefebvre, Mathilde, Chouchane, Mondher, Huet, Frédéric, Lafon, Arnaud, de Saint Martin, Anne, Lesca, Gaetan, El Chehadeh, Salima, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, Odent, Sylvie, Villard, Laurent, Philippe, Christophe, Faivre, Laurence, Rivière, Jean-Baptiste
Izdano 2014

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

od Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence
Izdano u Eur J Hum Genet (2016)

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

od Thauvin-Robinet, Christel, Thevenon, Julien, Nambot, Sophie, Delanne, Julian, Kuentz, Paul, Bruel, Ange-Line, Chassagne, Aline, Cretin, Elodie, Pelissier, Aurore, Peyron, Chritine, Gautier, Elodie, Lehalle, Daphné, Jean-Marçais, Nolwenn, Callier, Patrick, Mosca-Boidron, Anne-Laure, Vitobello, Antonio, Sorlin, Arthur, Tran Mau-Them, Frédéric, Philippe, Christophe, Vabres, Pierre, Demougeot, Laurent, Poé, Charlotte, Jouan, Thibaud, Chevarin, Martin, Lefebvre, Mathilde, Bardou, Marc, Tisserant, Emilie, Luu, Maxime, Binquet, Christine, Deleuze, Jean-François, Verstuyft, Céline, Duffourd, Yannis, Faivre, Laurence
Izdano u Eur J Hum Genet (2019)

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

od Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby M.E.I., Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom E.J., Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E., Hofstra, Robert, de Coo, Irenaeus F.M., Tabet, Anne-Claude, Molina, Thierry J., Keren, Boris, Brooks, Alice, Smeets, Hubert J.M., Marklund, Ulrika, Gordon, Christopher T., Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège
Izdano u J Clin Invest (2021)

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

od Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh
Izdano u Genet Med (2018)

Identification of novel candidate disease genes from de novo exonic copy number variants

od Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G., Matalon, Reuben, Emrick, Lisa, Proud, Monica B., Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R., Nugent, Kimberly M., Bader, Patricia I., Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E., Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P., Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L., Lalani, Seema R., Bacino, Carlos A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Patel, Ankita, Shaw, Chad A., Stankiewicz, Paweł
Izdano u Genome Med (2017)