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From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2 Hoebeke, Celia; Engel, Camille; Berat, Claire-Marine; Milh, Mathieu; Chaussenot, Annabelle; Boddaert, Nathalie; Chabrol, Brigitte; Saadi, Samira Ait-El-Mkadem; Fragaki, Konstantina; Pereira, Silvia; Lepelley, Alice; Bannwarth, Sylvie; Navarro, Lucile Riera; Paquis-Flucklinger, Veronique; Schiff, Manuel; Sissler, Marie; Rouzier, Cecile Share Save
Microsurgical Resection of Subependymal Giant Cell Astrocytoma: Single-Center Retrospective Analysis and Meta-Analysis Sartori, Luca MD; Guida, Lelio MD; Puget, Stéphanie MD, PhD; Bourgeois, Marie MD; Chémaly, Nicole MD, PhD; Varlet, Pascale MD, PhD; Dangoulof-Ros, Volodia MD, PhD; Boddaert, Nathalie MD, PhD; Nabbout, Rima MD, PhD; Beccaria, Kévin MD, PhD; Blauwblomme, Thomas MD, PhD Share Save
Targeted therapies plus radiotherapy for diffuse intrinsic pontine glioma: the randomized phase 2 BIOMEDE trial Debily, Marie-Anne; Le Teuff, Gwenael; Kergrohen, Thomas; Varlet, Pascale; Castel, David; Leblond, Pierre; Hargrave, Darren; Nysom, Karsten; Blomgren, Klas; McCowage, Geoffrey Brian; Bautista, Francisco; van Vuurden, Dannis; Jones, Chris; Mackay, Alan; Izquierdo, Elisa; Ziegler, David S.; Moussa, Angokai; Barret, Emilie; Puget, Stephanie; Beccaria, Kevin; Aquilina, Kristian; Riffaud, Laurent; Bolle, Stephanie; Abbou, Samuel; Bertozzi, Anne-Isabelle; De Carli, Emilie; Boddaert, Nathalie; Dangouloff-Ros, Volodia; Calmon, Raphael; Blanc, Patricia; Vassal, Gilles; Le Deley, Marie-Cecile; Grill, Jacques Share Save
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Biological Medicines for Diffuse Intrinsic Pontine Gliomas (DIPG) Eradication (BIOMEDE). An International Randomized Phase II Biomarker-driven Platform Trial Comparing Three Targeted Therapies in Combination with Radiotherapy Debily, Marie-Anne; Le Teuff, Gwenael; Kergrohen, Thomas; Varlet, Pascale Pascale; Castel, David; Leblond, Pierre; Hargrave, Darren; Nysom, Karsten; Blomgren, Klas; McCowage, Geoffrey Brian; Bautista, Francisco; Van Vuurden, Dannis; Jones, Chris; Ziegler, David; Moussa, Angokai; Barret, Emilie; Puget, Stephanie; Beccaria, Kevin; Aquilina, Kristian; Riffaud, Laurent; Bolle, Stephanie; Bertozzi, Anne-Isabelle; Abbou, Samuel; De Carli, Emilie; Boddaert, Nathalie; Calmon, Raphael; Blanc, Patricia; Vassal, Gilles; Grill, Jacques; Le Marie-Cecile, Deley Share Save
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DIFFUSE MIDLINE GLIOMA, H3 K27 AND BRAF/FGFR1 CO-ALTERED: DISTINCT BIOLOGY AND THERAPEUTIC OPPORTUNITIES Auffret, L.; Barry, C.; Ajlil, Y.; Tauziede-Espariat, A.; Simbozel, M.; Mayr, L.; Kergorhen, T.; Puiseux, C.; Riffaud, L.; Blouin, P.; Bertozzi, A.; Leblond, P.; Blomgren, K.; Froelich, S.; Picca, A.; Touat, M.; Sanson, M.; Beccaria, K.; Blauwblomme, T.; Dangouloff-Ros, V; Boddaert, N.; Gojo, J.; Filbin, M.; Varlet, P.; Debily, M.; Grill, J.; Castel, D. Share Save
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LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy Crespin, Matis; Siquier-Pernet, Karine; Marzin, Pauline; Bole-Feysot, Christine; Malan, Valerie; Nitschke, Patrick; Hully, Marie; Roux, Charles-Joris; Lemoine, Michel; Rio, Marlene; Boddaert, Nathalie; Courtin, Thomas; Cantagrel, Vincent Share Save
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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange-Line; Costet-Fighiera, Christine; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean-Michel; Perrault, Isabelle Share Save
A NEW SUBTYPE OF DIFFUSE MIDLINE GLIOMA, H3 K27 AND BRAF/FGFR1 CO-ALTERED, EXHIBITS SPECIFIC BIOLOGICAL CHARACTERISTICS AND NEW THERAPEUTIC VULNERABILITIES Auffret, Lucie; Barry, Clementine; Ajlil, Yassine; Tauziede-Espariat, Arnault; Mayr, Lisa; Simbozel, Marie; Kergrohen, Thomas; Puiseux, Chloe; Riffaud, Laurent; Blouin, Pascale; Bertozzi, Anne-Isabelle; Leblond, Pierre; Blomgren, Klas; Froelich, Sebastien; Picca, Alberto; Touat, Mehdi; Sanson, Marc; Beccaria, Kevin; Blauwblomme, Thomas; Dangouloff-Ros, Volodia; Boddaert, Nathalie; Gojo, Johannes; Filbin, Mariella; Varlet, Pascale; Debily, Marie-Anne; Grill, Jacques; Castel, David Share Save
CIC/ATXN1-rearranged tumors in the central nervous system are mainly represented by sarcomas: A comprehensive clinicopathological and epigenetic series Tauziede-Espariat, Arnault; Ebrahimi, Azadeh; Boddaert, Nathalie; Pietsch, Torsten; Grajkowska, Wieslawa; Blau, Tobias; Koch, Arend; Sievers, Philipp; Guillemot, Delphine; Pierron, Gaelle; Uro-Coste, Emmanuelle; Nicaise, Yvan; Siegfried, Aurore; Gilles, Adam; Bielle, Franck; Mokhtari, Karima; Cazals-Hatem, Dominique; Iakovlev, Gueorgui; Lhermitte, Benoit; Entz-Werle, Natacha; Csanyi, Marie; Maurage, Claude-Alain; Legrand, Victor; Boutonnat, Jean; Godfraind, Catherine; McLeer, Anne; Hasty, Lauren; Metais, Alice; Aboubakr, Oumaima; Blauwblomme, Thomas; Beccaria, Kevin; Dangouloff-Ros, Volodia; Varlet, Pascale Share Save
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent Share Save
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency Rotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel Share Save
Radiation-free and injection-free imaging of the paediatric chest using a magnetic resonance imaging protocol including zero time echo sequence (3D-ZTE) Drummond, David; Marquant, Fabienne; Zanelli, Elisa; Lozach, Cecile; Boddaert, Nathalie; Taam, Rola Abou; Neven, Benedicte; Le Bourgeois, Muriel; Hadchouel, Alice; Sarnacki, Sabine; Elie, Caroline; Delacourt, Christophe; Berteloot, Laureline Share Save
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