Authors: Husson, Thomas^{Aff1, Aff2}, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline^{Aff12, Aff13}, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas^{Aff19, Aff20}, Cogné, Benjamin^{Aff21, Aff22}, Colin, Estelle, Cormier-Daire, Valérie^{Aff24, Aff25}, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian^{Aff28, Aff29}, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie^{Aff29, Aff31}, Depienne, Christel, Dieux, Anne, Dubourg, Christèle^{Aff33, Aff34}, Edery, Patrick^{Aff19, Aff35}, El Chehadeh, Salima^{Aff36, Aff37, Aff38}, Faivre, Laurence^{Aff28, Aff29}, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore^{Aff28, Aff29}, Geneviève, David^{Aff41, Aff42}, Gilbert-Dussardier, Brigitte, Goizet, Cyril^{Aff44, Aff45}, Goldenberg, Alice, Gouy, Evan^{Aff19, Aff46}, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand^{Aff21, Aff22}, Lacombe, Didier, Le Guillou Horn, Xavier^{Aff50, Aff51}, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas^{Aff57, Aff58}, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde^{Aff21, Aff22}, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence^{Aff15, Aff16}, Pingault, Veronique^{Aff61, Aff62}, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey^{Aff19, Aff35}, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia^{Aff5, Aff64, Aff65}, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano^{Aff19, Aff35}, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas^{Aff16, Aff66}, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran^{Aff29, Aff31}, Trimouille, Aurélien^{Aff69, Aff70}, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie^{Aff21, Aff22}, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, Camille^{Aff72, IDs4143102301474x_cor98}

Superior Title: European Journal of Human Genetics. 32(2):190-199

Authors: Schmetz, Ariane^{Aff1, IDs00439023026225_cor1}, Lüdecke, Hermann-Josef, Surowy, Harald, Sivalingam, Sugirtahn, Bruel, Ange-Line^{Aff2, Aff3}, Caumes, Roseline, Charles, Perrine, Chatron, Nicolas^{Aff6, Aff7}, Chrzanowska, Krystyna, Codina-Solà, Marta, Colson, Cindy, Cuscó, Ivon, Denommé-Pichon, Anne-Sophie^{Aff2, Aff3}, Edery, Patrick^{Aff6, Aff10}, Faivre, Laurence^{Aff2, Aff11}, Green, Andrew, Heide, Solveig, Hsieh, Tzung-Chien, Hustinx, Alexander, Kleinendorst, Lotte, Knopp, Cordula, Kraft, Florian, Krawitz, Peter M., Lasa-Aranzasti, Amaia, Lesca, Gaetan^{Aff6, Aff7}, López-González, Vanesa, Maraval, Julien^{Aff2, Aff17}, Mignot, Cyril, Neuhann, Teresa, Netzer, Christian^{Aff19, Aff20}, Oehl-Jaschkowitz, Barbara, Petit, Florence, Philippe, Christophe^{Aff2, Aff3, Aff22}, Posmyk, Renata, Putoux, Audrey^{Aff6, Aff10}, Reis, André^{Aff24, Aff25}, Sánchez-Soler, María José, Suh, Julia^{Aff15, Aff26}, Tkemaladze, Tinatin, Tran Mau Them, Frédéric^{Aff2, Aff3}, Travessa, André, Trujillano, Laura, Valenzuela, Irene, van Haelst, Mieke M., Vasileiou, Georgia^{Aff24, Aff25}, Vincent-Delorme, Catherine, Walther, Mona, Verde, Pablo, Bramswig, Nuria C., Wieczorek, Dagmar^{Aff1, Aff30}

Superior Title: Human Genetics. 143(1):71-84

Authors: Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie

Superior Title: In Kidney International August 2023 104(2):378-387

Authors: Smol, Thomas, Brunelle, Perrine, Caumes, Roseline, Boute-Benejean, Odile, Thuillier, Caroline, Figeac, Martin, Ait-Yahya, Emilie, Bonte, Fabrice, Mau-Them, Frederic Tran, Thauvin-Robinet, Christel, Faivre, Laurence, Roche-Lestienne, Catherine, Manouvrier-Hanu, Sylvie, Petit, Florence, Ghoumid, Jamal

Superior Title: In European Journal of Medical Genetics November 2022 65(11)

Authors: Kassabian, Benedetta, Levy, Armanda M., Gardella, Elena, Aledo Serrano, Ángel, Ananth, Amitha L., Brea Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Fernández Jaén, Alberto, Rubboli, Guido

Subject Terms: Epilepsia, Encefalopatía hipertensiva, Ciencias médicas, Paciente

Relation: https://doi.org/10.1111/epi.17876; Kassabian, B., Levy, A. M., Gardella, E., Aledo‐Serrano, A., Ananth, A. L., Brea‐Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé‐Pichon, A., Dye, T. J., Fazzi, E., Felt, R., Fernández‐Jaén, A., Fernández‐Prieto, M., Gantz, E., Gasperowicz, P., Gil‐Nagel, A., … Rubboli, G. (2024). Developmental epileptic encephalopathy in DLG4 ‐related synaptopathy. Epilepsia, Advance online publication. https://doi.org/10.1111/epi.17876; http://hdl.handle.net/11268/12765

Availability: https://doi.org/10.1111/epi.17876
http://hdl.handle.net/11268/12765

Authors: Happ, Hannah C, Sadleir, Lynette G, Zemel, Matthew, de Valles-Ibáñez, Guillem, Hildebrand, Michael S, McConkie-Rosell, Allyn, McDonald, Marie, May, Halie, Sands, Tristan, Aggarwal, Vimla, Elder, Christopher, Feyma, Timothy, Bayat, Allan, Møller, Rikke S, Fenger, Christina D, Klint Nielsen, Jens Erik, Datta, Anita N, Gorman, Kathleen M, King, Mary D, Linhares, Natalia D, Burton, Barbara K, Paras, Andrea, Ellard, Sian, Rankin, Julia, Shukla, Anju, Majethia, Purvi, Olson, Rory J, Muthusamy, Karthik, Schimmenti, Lisa A, Starnes, Keith, Sedláčková, Lucie, Štěrbová, Katalin, Vlčková, Markéta, Laššuthová, Petra, Jahodová, Alena, Porter, Brenda E, Couque, Nathalie, Colin, Estelle, Prouteau, Clément, Collet, Corinne, Smol, Thomas, Caumes, Roseline, Vansenne, Fleur, Bisulli, Francesca, Licchetta, Laura, Person, Richard, Torti, Erin, McWalter, Kirsty, Webster, Richard, Gerard, Elizabeth E, Lesca, Gaetan, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C, Carvill, Gemma L

Superior Title: Happ , H C , Sadleir , L G , Zemel , M , de Valles-Ibáñez , G , Hildebrand , M S , McConkie-Rosell , A , McDonald , M , May , H , Sands , T , Aggarwal , V , Elder , C , Feyma , T , Bayat , A , Møller , R S , Fenger , C D , Klint Nielsen , J E , Datta , A N , Gorman , K M , King , M D , Linhares , N D , Burton , B K , Paras , ....

Subject Terms: Infant, Newborn, Humans, Child, Mutation, Epilepsy/genetics, Epilepsy, Generalized/genetics, Seizures/genetics, Phenotype

Relation: https://portal.findresearcher.sdu.dk/da/publications/62689643-b955-4658-9f19-c571c88857cc

Availability: https://doi.org/10.1212/WNL.0000000000201492
https://portal.findresearcher.sdu.dk/da/publications/62689643-b955-4658-9f19-c571c88857cc
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36307226/

Authors: HUSSON, Thomas, LECOQUIERRE, François, NICOLAS, Gaël, RICHARD, Anne-Claire, AFENJAR, Alexandra, AUDEBERT-BELLANGER, Séverine, BADENS, Catherine, BILAN, Frédéric, BIZAOUI, Varoona, BOLAND, Anne, BONNET-DUPEYRON, Marie-Noëlle, BRISCHOUX-BOUCHER, Elise, BONNET, Celine, BOURNEZ, Marie, BOUTE, Odile, BRUNELLE, Perrine, CAUMES, Roseline, CHARLES, Perrine, CHASSAING, Nicolas, CHATRON, Nicolas, COGNÉ, Benjamin, COLIN, Estelle, CORMIER-DAIRE, Valérie, DARD, Rodolphe, DAURIAT, Benjamin, DELANNE, Julian, DELEUZE, Jean-François, DEMURGER, Florence, DENOMMÉ-PICHON, Anne-Sophie, DEPIENNE, Christel, DIEUX, Anne, DUBOURG, Christèle, EDERY, Patrick, EL CHEHADEH, Salima, FAIVRE, Laurence, FERGELOT, Patricia, FRADIN, Mélanie, GARDE, Aurore, GENEVIÈVE, David, GILBERT-DUSSARDIER, Brigitte, GOIZET, Cyril, GOLDENBERG, Alice, GOUY, Evan, GUERROT, Anne-Marie, GUIMIER, Anne, HARZALLA, Inès, HÉRON, Delphine, ISIDOR, Bertrand, LACOMBE, Didier, LE GUILLOU HORN, Xavier, KEREN, Boris, KUECHLER, Alma, LACAZE, Elodie, LAVILLAUREIX, Alinoë, LEHALLE, Daphné, LESCA, Gaetan, LESPINASSE, James, LEVY, Jonathan, LYONNET, Stanislas, MOREL, Godeliève, JEAN-MARÇAIS, Nolwenn, MARLIN, Sandrine, MARSILI, Luisa, MIGNOT, Cyril, NAMBOT, Sophie, NIZON, Mathilde, OLASO, Robert, PASQUIER, Laurent, PERRIN, Laurine, PETIT, Florence, PINGAULT, Veronique, PITON, Amelie, PRIEUR, Fabienne, PUTOUX, Audrey, PLANES, Marc, ODENT, Sylvie, QUELIN, Chloe, QUEMENER-REDON, Sylvia, RAMA, Mélanie, RIO, Marlène, ROSSI, Massimiliano, SCHAEFER, Elise, RONDEAU, Sophie, SAUGIER-VEBER, Pascale, SMOL, Thomas, SIGAUDY, Sabine, TOURAINE, Renaud, MAU-THEM, Frederic Tran, TRIMOUILLE, Aurelien, VAN GILS, Julien, VANLERBERGHE, Clémence, VANTALON, Valérie, VERA, Gabriella, VINCENT, Marie, ZIEGLER, Alban, GUILLIN, Olivier, CAMPION, Dominique, CHARBONNIER, Camille

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/186204

Availability: https://doi.org/20.500.12278/18620410.1038/s41431-023-01474-x
https://oskar-bordeaux.fr/handle/20.500.12278/186204
https://hdl.handle.net/20.500.12278/186204

Authors: Burger, Pauline, Colin, Florent, Strehle, Axelle, Mazzucotelli, Timothée, Collot, Nicole, Bouman, Ariane, Prat, Daphna Landau, Geneviève, David, Ruault, Valentin, Caumes, Roseline, Smol, Thomas, Ghoumid, Jamal, Kummeling, Joost, Ockeloen, Charlotte, Kleefstra, Tjitske, Parrend, Pierre, Piton, Amélie, Koolen, David, Mandel, Jean-Louis

Contributors: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Superior Title: ISSN: 2949-7744 ; Genetics in Medicine Open ; https://hal.science/hal-04089557 ; Genetics in Medicine Open, 2023, 1 (Supplément 1), pp.100699. ⟨10.1016/j.gimo.2023.100699⟩.

Subject Terms: [INFO.INFO-AI]Computer Science [cs]/Artificial Intelligence [cs.AI]

Relation: hal-04089557; https://hal.science/hal-04089557; https://hal.science/hal-04089557/document; https://hal.science/hal-04089557/file/islandora_162502.pdf

Availability: https://doi.org/10.1016/j.gimo.2023.100699
https://hal.science/hal-04089557
https://hal.science/hal-04089557/document
https://hal.science/hal-04089557/file/islandora_162502.pdf

Authors: Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie, Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia

Contributors: Institut National de la Santé et de la Recherche Médicale, Deutsche Forschungsgemeinschaft, Agence Nationale de la Recherche

Superior Title: Kidney International ; volume 104, issue 2, page 378-387 ; ISSN 0085-2538

Subject Terms: Nephrology

Availability: https://doi.org/10.1016/j.kint.2023.05.007
https://api.elsevier.com/content/article/PII:S0085253823003770?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253823003770?httpAccept=text/plain

Authors: Verebi, Camille, Caumes, Roseline, Chantot-Bastaraud, Sandra, Deburgrave, Nathalie, Orhant, Lucie, Vaucouleur, Nicolas, Cuisset, Laurence, Bienvenu, Thierry, Leturcq, France, Nectoux, Juliette

Superior Title: Neuromuscular Disorders ; volume 33, issue 5, page 367-370 ; ISSN 0960-8966

Subject Terms: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

Availability: https://doi.org/10.1016/j.nmd.2023.03.004
https://api.elsevier.com/content/article/PII:S0960896623000706?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623000706?httpAccept=text/plain

Authors: Burger, Pauline, Colin, Florent, Strehle, Axelle, Mazzucotelli, Timothée, Collot, Nicole, Bouman, Ariane, Prat, Daphna Landau, Geneviève, David, Ruault, Valentin, Caumes, Roseline, Smol, Thomas, Ghoumid, Jamal, Kummeling, Joost, Ockeloen, Charlotte, Kleefstra, Tjitske, Parrend, Pierre, Piton, Amélie, Koolen, David, Mandel, Jean-Louis

Superior Title: Genetics in Medicine Open ; volume 1, issue 1, page 100699 ; ISSN 2949-7744

Availability: https://doi.org/10.1016/j.gimo.2023.100699
https://api.elsevier.com/content/article/PII:S2949774423006994?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423006994?httpAccept=text/plain

Authors: Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line^{Aff4, Aff5}, Denommé-Pichon, Anne-Sophie^{Aff4, Aff5}, Faivre, Laurence^{Aff4, Aff6}, Tran Mau-Them, Frédéric^{Aff4, Aff5}, Tessarech, Marine, Colin, Estelle^{Aff7, Aff8}, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François^{Aff1, IDs0043902102383z_cor70}

Superior Title: Human Genetics. 141(1):65-80

Authors: Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo‐Serrano, Angel, Ananth, Amitha L., Brea‐Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé‐Pichon, Anne‐Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández‐Jaén, Alberto, Fernández‐Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil‐Nagel, Antonio, Gómez‐Andrés, David

Superior Title: Epilepsia (Series 4); Apr2024, Vol. 65 Issue 4, p1029-1045, 17p

Subject Terms: EPILEPSY, SLEEP interruptions, POSTSYNAPTIC density protein, BRAIN diseases, SEIZURES (Medicine), MOVEMENT disorders

Authors: Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M., Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A., Labalme, Audrey, Cuddapah, Vishnu A., Ruggiero, Sarah M., Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O., Helbig, Katherine L., Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A., Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S., Rosenfeld, Jill A., Au, Margaret, Grand, Katheryn, Graham, John M., Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja

Superior Title: Neurology ; volume 102, issue 2 ; ISSN 0028-3878 1526-632X

Subject Terms: Neurology (clinical)

Availability: https://doi.org/10.1212/wnl.0000000000207945

Authors: Stamberger, Hannah^{Aff1, Aff2}, Hammer, Trine B.^{Aff3, Aff4}, Gardella, Elena^{Aff3, Aff5}, Vlaskamp, Danique R. M.^{Aff1, Aff6, Aff7}, Bertelsen, Birgitte, Mandelstam, Simone^{Aff9, Aff10, Aff11, Aff12, Aff13}, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria^{Aff20, Aff21}, Bennett, Mark F.^{Aff1, Aff22, Aff23}, Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick^{Aff29, Aff32}, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali^{Aff20, Aff21}, Helle, Johan R., Hildebrand, Michael S.^{Aff1, Aff10}, Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W.^{Aff34, Aff37}, Koeleman, Bobby P. C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit^{Aff21, Aff40}, Leventer, Richard J.^{Aff9, Aff10, Aff11}, Mackay, Mark T.^{Aff9, Aff10, Aff11}, Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva^{Aff34, Aff37}, Moutton, Sebastien^{Aff43, Aff44}, Muir, Alison M., Parrini, Elena, Procopis, Peter^{Aff30, Aff45}, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano^{Aff29, Aff32}, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T. R. M., Stuurman, Kyra, Symonds, Joseph D.^{Aff54, Aff55}, Mau-Them, Frederic Tran^{Aff56, Aff57}, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey^{Aff27, Aff59}, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet^{Aff21, Aff62}, Zuberi, Sameer M.^{Aff54, Aff55}, Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S.^{Aff3, Aff5}, Scheffer, Ingrid E.^{Aff1, Aff9, Aff10, Aff11, Aff13}

Superior Title: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(2):363-373

Authors: Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E., Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A., Kaiser, Frank J., Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H., Zara, Federico, Striano, Pasquale

Superior Title: Frontiers in Cell and Developmental Biology ; volume 10 ; ISSN 2296-634X

Availability: https://doi.org/10.3389/fcell.2022.1019715

Authors: Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, B. nédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S.

Superior Title: Johannesen , K M , Liu , Y , Koko , M , Gjerulfsen , C E , Sonnenberg , L , Schubert , J , Fenger , C D , Eltokhi , A , Rannap , M , Koch , N A , Lauxmann , S , Krüger , J , Kegele , J , Canafoglia , L , Franceschetti , S , Mayer , T , Rebstock , J , Zacher , P , Ruf , S , Alber , M , Sterbova , K , Lassuthová , P , Vlckova , M , Lemke , J ....

Relation: https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826df

Availability: https://doi.org/10.1093/brain/awab321
https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826df
http://www.scopus.com/inward/record.url?scp=85138447351&partnerID=8YFLogxK

Authors: Schoonjans, An Sofie, Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P Y Billie, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, Braakman, Hilde M H, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cécile, Destrée, Anne

Contributors: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire

Superior Title: Brain, Vol. 145, no.9, p. 2991-3009 (2022)

Subject Terms: Epilepsy, Generalized, Epileptic Syndromes, Genetic Association Studies, Humans, Infant, Intellectual Disability, Mutation, NAV1.6 Voltage-Gated Sodium Channel, Prognosis, Seizures, Sodium Channel Blockers, SCN8A, genetics, personalized medicine

Relation: boreal:278286; http://hdl.handle.net/2078.1/278286; info:pmid/34431999; urn:ISSN:0006-8950; urn:EISSN:1460-2156

Availability: https://doi.org/10.1093/brain/awab321
http://hdl.handle.net/2078.1/278286

Authors: Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun (Helen), Swoboda, Kathryn J., Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, McMillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A., Kurtz-Nelson, Evangeline C., Earl, Rachel K., Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thomas, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G., Morrow, Michelle M., Eichler, Evan E., Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui

Contributors: Pediatrics, School of Medicine

Superior Title: PMC

Subject Terms: DNA helicases, Neurodevelopmental disorders, RNA helicases, Stress granules

File Description: application/pdf

Relation: Science Advances; Jia X, Zhang S, Tan S, et al. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Sci Adv. 2022;8(33):eabo7112. doi:10.1126/sciadv.abo7112; https://hdl.handle.net/1805/34710

Availability: https://doi.org/10.1126/sciadv.abo7112
https://hdl.handle.net/1805/34710

Authors: Caumes, Roseline, Smol, Thomas, Thuillier, Caroline, Balerdi, Marie, Lestienne-Roche, Catherine, Manouvrier-Hanu, Sylvie, Ghoumid, Jamal

Superior Title: In European Journal of Medical Genetics December 2020 63(12)