Children do not distinguish efficient from inefficient actions during observation

por Ossmy, Ori, Han, Danyang, Kaplan, Brianna E., Xu, Melody, Bianco, Catherine, Mukamel, Roy, Adolph, Karen E.
Publicado 2021

A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene

por Mongrain, Valérie, van Doesburg, Nicolaas H., Rypens, Françoise, Fallet-Bianco, Catherine, Maassen, Justine, Dufort-Gervais, Julien, Côté, Lucie, Major, Philippe
Publicado 2020

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

por Jaber, Dana, Gitiaux, Cyril, Blesson, Sophie, Marguet, Florent, Buard, David, Varela Salgado, Maritzaida, Kaminska, Anna, Saada, Julien, Fallet-Bianco, Catherine, Martinovic, Jelena, Laquerriere, Annie, Melki, Judith
Publicado 2021

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

por Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia
Publicado 2014

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

por Perrier, Stefanie, Gauquelin, Laurence, Fallet-Bianco, Catherine, Dishop, Megan K., Michell-Robinson, Mackenzie A., Tran, Luan T., Guerrero, Kether, Darbelli, Lama, Srour, Myriam, Petrecca, Kevin, Renaud, Deborah L., Saito, Michael, Cohen, Seth, Leiz, Steffen, Alhaddad, Bader, Haack, Tobias B., Tejera-Martin, Ingrid, Monton, Fernando I., Rodriguez-Espinosa, Norberto, Pohl, Daniela, Nageswaran, Savithri, Grefe, Annette, Glamuzina, Emma, Bernard, Geneviève
Publicado 2020

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes

por Krochmalnek, Eric, Accogli, Andrea, St-Onge, Judith, Addour-Boudrahem, Nassima, Prakash, Gyan, Kim, Sung-Hoon, Brunette-Clement, Tristan, Alhajaj, Ghadd, Mougharbel, Lina, Bruneau, Elena, Myers, Kenneth A., Dubeau, Francois, Karamchandani, Jason, Farmer, Jean-Pierre, Atkinson, Jeffrey, Hall, Jeffrey, Chantal Poulin, Chantal, Rosenblatt, Bernard, Lafond-Lapalme, Joel, Weil, Alexander, Fallet-Bianco, Catherine, Albrecht, Steffen, Sonenberg, Nahum, Riviere, Jean-Baptiste, Dudley, Roy W., Srour, Myriam
Publicado 2023

Pandemic beyond the virus: maternal COVID-related postnatal stress is associated with infant temperament

por Bianco, Catherine, Sania, Ayesha, Kyle, Margaret H., Beebe, Beatrice, Barbosa, Jennifer, Bence, Mary, Coskun, Lerzan, Fields, Andrea, Firestein, Morgan R., Goldman, Sylvie, Hane, Amie, Hott, Violet, Hussain, Maha, Hyman, Sabrina, Lucchini, Maristella, Marsh, Rachel, Mollicone, Isabelle, Myers, Michael, Ofray, Dayshalis, Pini, Nicolo, Rodriguez, Cynthia, Shuffrey, Lauren C., Tottenham, Nim, Welch, Martha G., Fifer, William, Monk, Catherine, Dumitriu, Dani, Amso, Dima
Publicado 2022

Assessment of Neurodevelopment in Infants With and Without Exposure to Asymptomatic or Mild Maternal SARS-CoV-2 Infection During Pregnancy

por Firestein, Morgan R., Shuffrey, Lauren C., Hu, Yunzhe, Kyle, Margaret, Hussain, Maha, Bianco, Catherine, Hott, Violet, Hyman, Sabrina P., Kyler, Mia, Rodriguez, Cynthia, Tejeda Romero, Melanie, Tzul Lopez, Helen, Alcántara, Carmela, Amso, Dima, Austin, Judy, Bain, Jennifer M., Barbosa, Jennifer, Battarbee, Ashley N., Bruno, Ann, Ettinger, Sharon, Factor-Litvak, Pam, Gilboa, Suzanne, Goldman, Sylvie, Gyamfi-Bannerman, Cynthia, Maniatis, Panagiotis, Marsh, Rachel, Morrill, Tyler, Mourad, Mirella, Muhle, Rebecca, Newes-Adeyi, Gabriella, Noble, Kimberly G., O’Reilly, Kally C., Penn, Anna A., Reichle, Lawrence, Sania, Ayesha, Semenova, Vera, Silver, Wendy G., Smotrich, Grace, Tita, Alan T., Tottenham, Nim, Varner, Michael, Welch, Martha G., Zork, Noelia, Garey, Donna, Fifer, William P., Stockwell, Melissa S., Monk, Catherine, Dawood, Fatimah, Dumitriu, Dani
Publicado 2023

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022