학술논문
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'학술논문'
에서 검색결과 193건 | 목록
1~20
Academic Journal
Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossée, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William; Wierenga, Klaas; Klee, Eric; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel; Ambrose, J; Arumugam, P; Baple, E; Bleda, M; Boardman-Pretty, F; Boissiere, J; Boustred, C; Brittain, H; Caulfield, M; Chan, G; Craig, C; Daugherty, L; de Burca, A; Devereau, A; Elgar, G; Foulger, R; Fowler, T; Furió-Tarí, P; Hackett, J; Halai, D; Hamblin, A; Henderson, S; Holman, J; Hubbard, T; Ibáñez, K; Jackson, R; Jones, L; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, S; Leong, I; Lopez, F; Maleady-Crowe, F; Mason, J; Mcdonagh, E; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A; Odhams, C; Patch, C; Perez-Gil, D; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Savage, K; Sawant, K; Scott, R; Siddiq, A; Sieghart, A; Smedley, D; Smith, K; Sosinsky, A; Spooner, W; Stevens, H; Stuckey, A; Sultana, R; Thomas, E; Thompson, S; Tregidgo, C; Tucci, A; Walsh, E; Watters, S; Welland, M; Williams, E; Witkowska, K; Wood, S; Zarowiecki, M
Brain. 147:3681-3689
Academic Journal
Desprez, Florence; Remize, Solène; François-Moutal, Liberty; Ung, Dévina C.; Dangoumau, Audrey; Marouillat, Sylviane; Kennedy, Joanna; Low, Karen J.; Kumps, Camille; Unger, Sheila; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Poirsier, Céline; Mirzaa, Ghayda M.; Aldinger, Kimberly A.; Lesca, Gaetan; Ruault, Valentin; Finnila, Candice R.; Kelley, Whitley V.; Latner, Donald R.; Guptha, Sushma N.; Tuttle, Annabelle; Glass, Ian; Chung, Wendy K.; Hayek, Jennifer Cassady; Boute, Odile; Moutal, Aubin; Jeanne, Médéric; Laumonnier, Frédéric
Molecular Psychiatry. :1-13
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Salima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus; DEFIDIAG study group
Genome Medicine, Vol 17, Iss 1, Pp 1-28 (2025)
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Messaoud-Khelifi, Mouna; Boulariah-Hadjou, Razika; Kediha, Mohamed Islam; Guillot-Noel, Lena; Guillaud-Bataille, Marine; Durand, Christelle Marie; Ali-Pacha, Lamia; Amer El Khedoud, Wahiba; Mochel, Fanny; de Sainte-Agathe, Jean-Madeleine; Stevanin, Giovanni
Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. 26(1)
Academic Journal
Sperelakis-Beedham, Brian; Gitiaux, Cyril; Rajaoba, Marine; Magen, Maryse; Derive, Nicolas; Chansard, Jerome; de Sainte Agathe, Jean-Madeleine; Maurin, Marie-Laure; Assouline, Zahra; Barnerias, Christine; Desguerre, Isabelle; Steffann, Julie; Barcia, Giulia
European Journal of Human Genetics. 33:137-140
Academic Journal
Dharmadhikari, Avinash V.; Abad, Maria Alba; Khan, Sheraz; Maroofian, Reza; Sands, Tristan T.; Ullah, Farid; Samejima, Itaru; Shen, Yanwen; Wear, Martin A.; Moore, Kiara E.; Kondakova, Elena; Mitina, Natalia; Schaub, Theres; Lee, Grace K.; Umandap, Christine H.; Berger, Sara M.; Iglesias, Alejandro D.; Popp, Bernt; Abou Jamra, Rami; Gabriel, Heinz; Rentas, Stefan; Rippert, Alyssa L.; Gray, Christopher; Izumi, Kosuke; Conlin, Laura K.; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Hickey, Scott E.; Albert, Dara V. F.; Norwood, Haley; Lewanda, Amy Feldman; Dai, Hongzheng; Liu, Pengfei; Mitani, Tadahiro; Marafi, Dana; Eker, Hatice Koçak; Pehlivan, Davut; Posey, Jennifer E.; Lippa, Natalie C.; Vena, Natalie; Heinzen, Erin L.; Goldstein, David B.; Mignot, Cyril; de Sainte Agathe, Jean-Madeleine; Al-Sannaa, Nouriya Abbas; Zamani, Mina; Sadeghian, Saeid; Azizimalamiri, Reza; Seifia, Tahere; Zaki, Maha S.; Abdel-Salam, Ghada M. H.; Abdel-Hamid, Mohamed S.; Alabdi, Lama; Alkuraya, Fowzan Sami; Dawoud, Heba; Lofty, Aya; Bauer, Peter; Zifarelli, Giovanni; Afzal, Erum; Zafar, Faisal; Efthymiou, Stephanie; Gossett, Daniel; Towne, Meghan C.; Yeneabat, Raey; Perez-Duenas, Belen; Cazurro-Gutierrez, Ana; Verdura, Edgard; Cantarin-Extremera, Veronica; Marques, Ana do Vale; Helwak, Aleksandra; Tollervey, David; Wontakal, Sandeep N.; Aggarwal, Vimla S.; Rosenfeld, Jill A.; Tarabykin, Victor; Ohta, Shinya; Lupski, James R.; Houlden, Henry; Earnshaw, William C.; Davis, Erica E.; Jeyaprakash, A. Arockia; Liao, Jun
Nature Communications. 16(1)
Academic Journal
Florian Kraft; Piere Rodriguez-Aliaga; Weimin Yuan; Lena Franken; Kamil Zajt; Dimah Hasan; Ting-Ting Lee; Elisabetta Flex; Andreas Hentschel; A. Micheil Innes; Bixia Zheng; Dong Sun Julia Suh; Cordula Knopp; Eva Lausberg; Jeremias Krause; Xiaomeng Zhang; Pamela Trapane; Riley Carroll; Martin McClatchey; Andrew E. Fry; Lisa Wang; Sebastian Giesselmann; Hieu Hoang; Dustin Baldridge; Gary A. Silverman; Francesca Clementina Radio; Enrico Bertini; Andrea Ciolfi; Katherine A Blood; Jean-Madeleine de Sainte Agathe; Perrine Charles; Gaber Bergant; Goran Čuturilo; Borut Peterlin; Karin Diderich; Haley Streff; Laurie Robak; Renske Oegema; Ellen van Binsbergen; John Herriges; Carol J. Saunders; Andrea Maier; Stefan Wolking; Yvonne Weber; Hanns Lochmüller; Stefanie Meyer; Alberto Aleman; Kiran Polavarapu; Gael Nicolas; Alice Goldenberg; Lucie Guyant; Kathleen Pope; Katherine N. Hehmeyer; Kristin G. Monaghan; Annegret Quade; Thomas Smol; Roseline Caumes; Sarah Duerinckx; Chantal Depondt; Wim Van Paesschen; Claudine Rieubland; Claudia Poloni; Michel Guipponi; Severine Arcioni; Marije Meuwissen; Anna C. Jansen; Jessica Rosenblum; Tobias B. Haack; Miriam Bertrand; Lea Gerstner; Janine Magg; Olaf Riess; Jörg B. Schulz; Norbert Wagner; Martin Wiesmann; Joachim Weis; Thomas Eggermann; Matthias Begemann; Andreas Roos; Martin Häusler; Tim Schedl; Marco Tartaglia; Juliane Bremer; Stephen C. Pak; Judith Frydman; Miriam Elbracht; Ingo Kurth
Science
Academic Journal
Symonds, Joseph; Park, Kristen; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Geneviève; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie; Cutcutache, Ioana; de Sainte Agathe, Jean‐madeleine; Dyment, David; Elliot, Katherine; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; Mctague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie‐laure; Wolf, Nicole; Wakeling, Emma; Yoon, Grace; Knight, Julian; Zuberi, Sameer
Epilepsia. 65:3303-3323
Academic Journal
Bou-Rouphael, Johnny ; Cospain, Auriane ; Courtin, Thomas ; Keren, Boris ; Marie, Corentine ; Lesieur-Sebellin, Marion ; Heron, Delphine ; de Sainte Agathe, Jean-Madeleine ; Heide, Solveig ; Lejeune, Elodie ; Quelin, Chloe ; Lecoquierre, François ; Nizon, Mathilde ; Isidor, Bertrand ; Besnard, Thomas ; Cogne, Benjamin ; Latypova, Xenia ; Levy, Jonathan ; Joset, Pascal ; Steindl, Katharina ; Palomares-Bralo, Maria ; Santos-Simarro, Fernando ; Thomas, Mary Ann ; Abubakar, Amina ; Lynch, Sally Ann ; Müller, Amelie J. ; Haack, Tobias B. ; Zenker, Martin ; Parker, Michael ; Clossick, Emma ; Spiller, Michael ; Crookes, Renarta ; Holder-Espinasse, Muriel ; Bayat, Allan ; Møller, Rikke S. ; Mieszczanek, Tomasz Stanislaw ; de la Grange, Pierre ; Buratti, Julien ; Marijon, Pierre ; Ataf, Sabir ; Gavin, Ryan ; Parras, Carlos ; Hassan, Bassem A. ; Mignot, Cyril ; El Khattabi, Laïla
In The American Journal of Human Genetics 6 November 2025 112(11):2605-2624
Academic Journal
Cogan, Guillaume; Zaki, Maha; Issa, Mahmoud; Keren, Boris; Guillaud-Bataille, Marine; Renaldo, Florence; Isapof, Arnaud; Lallemant, Pauline; Stevanin, Giovanni; Guillot-Noel, Lena; Courtin, Thomas; Buratti, Julien; Freihuber, Cécile; Gleeson, Joseph; Howarth, Robyn; Durr, Alexandra; de Sainte Agathe, Jean-Madeleine; Mignot, Cyril
Human Genetics. 143:1353-1362
Academic Journal
de Sainte Agathe, Jean-Madeleine; Monin, Pauline; Riccardi, Florence; Nava, Caroline; Arnaud, Lionel; Mignot, Cyril; Ville, Dorothée; Auvin, Stéphane; Tardieu, Sandrine; Larcher, Kathy; Gourfinkel-An, Isabelle; Canon, Mathilde; Navarro, Vincent; Héron, Bénédicte; Julia, Sophie; Doummar, Diane; Jacquemont, Marie-Line; Maurey, Hélène; Dozières-Puyravel, Blandine; Perrin, Laurence; Pasquier, Laurent; Dubourg, Christèle; Odent, Sylvie; Bouazzaoui, Abdelhakim; Carre, Wilfrid; Fradin, Mélanie; Demurger, Florence; Chatron, Nicolas; Sanlaville, Damien; Essid, Miriam; Portes, Vincent Des; Panagiotakaki, Eleni; Poulat, Anne-Lise; Rivier, Clotilde; Sarret, Catherine; Remerand, Ganaëlle; Altuzarra, Cecilia; Stoeva, Radka; Nguyen, Sylvie; Piard, Juliette; Boucher, Élise; Flurin, Vincent; Guerrot, Anne-Marie; Joriot, Sylvie; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Camus, Caroline Hachon-Le; Villard, Laurent; Faoucher, Marie; Milh, Mathieu; Lesca, Gaëtan; Leguern, Éric
Eur J Neurol
Academic Journal
Rive Le Gouard, Nicolas; G. Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne‐laure; de Sainte-Agathe, Jean‐madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J. A. Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril
Eur J Neurol
Academic Journal
Bratman Morag, Sharon ; Itzkovich, Chen ; Kurolap, Alina ; Shohat, Mordechai ; Durr, Alexandra ; de Sainte Agathe, Jean-Madeleine ; Bertrand, Jeremy ; Koifman, Arie ; Alkelai, Anna ; Shuldiner, Alan R. ; Mory, Adi ; Harel, Tamar ; Mor-Shaked, Hagar ; Shalata, Adel ; Paperna, Tamar ; Baris Feldman, Hagit ; Kakun, Reli R. ; Kornitzer, Daniel ; Salzberg, Adi ; Weiss, Karin
In Genetics in Medicine November 2025 27(11)
Academic Journal
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In The Lancet Regional Health - Europe March 2025 50
Academic Journal
Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka; Solve-RD consortium; Siddharth; Lohmann, Katja; Ossowski Stephan; Solve-RD consortium: Alfons Macaya; Belén Pérez-Dueñas; Adam Jackson; Giovanni Stevanin; Jean-Madeleine de Sainte Agathe; Markéta Havlovicová; Rita Horvath; Michele Pinelli; Nienke J H van Os; Bart P C van de Warrenburg; Anne-Sophie Denommé-Pichon; Marco Savarese; Mridul Johari; Bruno Dallapiccola; Marco Tartaglia; Martje G Pauly; Anna Katharina Sommer; Tobias B Haack; Ana Töpf; Lacombe Didier; Chiara Fallerini; Alessandra Renieri; Patrick F Chinnery; Daniel Natera-de Benito; Andres Nascimento; Aurélien Trimouille; Francina Munell; Anna Marcé-Grau; Ben Yaou Rabah; Gisèle Bonne; Liedewei Van de Vondel
Eur J Hum Genet
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A, Stevanin, G,Agathe , J-M D S, Havlovicová, M, Horvath, R, Pinelli, M, Os, N J H V, Warrenburg, B P C V D, Denommé-Pichon, A-S, Savarese, M, Johari, M, Dallapiccola, B, Tartaglia, M, Pauly, M G, Sommer, A K, Haack, T B, Töpf, A, Didier, L, Fallerini, C, Renieri, A, Chinnery, P F, Benito, D N, Nascimento, A, Trimouille, A, Munell, F, Marcé-Grau, A, Rabah, B Y, Bonne, G, Vondel, L V D, Lohmann, K & Ossowski, S 2024, 'Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes', European Journal of Human Genetics, vol. 32, no. 8, pp. 998-1004. https://doi.org/10.1038/s41431-024-01637-4
Demidov, G, Laurie, S, Torella, A, Piluso, G, Scala, M, Morleo, M, Nigro, V, Graessner, H, Banka, S, Macaya, A, Pérez-Dueñas, B, Jackson, A, Stevanin, G,
Academic Journal
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle; Bryant, Emily; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen; Friedman, Jennifer; Iascone, Maria; Cereda, Anna; Miao, Térence; Leguern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn; Owens, Joshua; Husami, Ammar; Chaudhari, Bimal; Stone, Brandon; Burns, Katie; Li, Rachel; de Lange, Iris; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf; Trimouille, Aurélien
J Med Genet
J. Med. Genet. 60, 999-1005 (2023)
Journal of Medical Genetics, vol 60, iss 10
J. Med. Genet. 60, 999-1005 (2023)
Journal of Medical Genetics, vol 60, iss 10
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