Staging of newly diagnosed Ewing sarcoma: Results of bone marrow aspiration and biopsy versus (18)FDG-PET/CT imaging for bone marrow involvement von Guinot, A., Tabone-Eglinger, S., Isnardi, V., Bahri, H., Surdez, D., Delattre, O., Pierron, G., Villemeur, M., Lapouble, E., Brahmi, M., Bouhamama, A., Corradini, N., Marec-Bérard, Perrine

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Staging of newly diagnosed Ewing sarcoma: Results of bone marrow aspiration and biopsy versus (18)FDG-PET/CT imaging for bone marrow involvement von Guinot, A, Tabone-Eglinger, S, Isnardi, V, Bahri, H, Surdez, D, Delattre, O, Pierron, G, Villemeur, M, Lapouble, E, Brahmi, M, Bouhamama, A, Corradini, N, Marec-Bérard, Perrine

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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype von Micol, Romain, MD, MPH, PhD, Ben Slama, Lilia, PhD, Suarez, Felipe, MD, PhD, Le Mignot, Loïc, MSc, Beauté, Julien, MD, MSc, Mahlaoui, Nizar, MD, MSc, Dubois d’Enghien, Catherine, BSc, Laugé, Anthony, BSc, Hall, Janet, PhD, Couturier, Jérôme, MD, Vallée, Louis, MD, Delobel, Bruno, MD, Rivier, François, MD, PhD, Nguyen, Karine, MD, Billette de Villemeur, Thierry, MD, Stephan, Jean-Louis, MD, Bordigoni, Pierre, MD, Bertrand, Yves, MD, Aladjidi, Nathalie, MD, Pedespan, Jean-Michel, MD, Thomas, Caroline, MD, Pellier, Isabelle, MD, MSc, Koenig, Michel, MD, PhD, Hermine, Olivier, MD, PhD, Picard, Capucine, MD, PhD, Moshous, Despina, MD, PhD, Neven, Bénédicte, MD, PhD, Lanternier, Fanny, MD, Blanche, Stéphane, MD, Tardieu, Marc, MD, PhD, Debré, Marianne, MD, Fischer, Alain, MD, PhD, Stoppa-Lyonnet, Dominique, MD, PhD

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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability von Heide, Solveig, MD, Keren, Boris, MD, PhD, Billette de Villemeur, Thierry, MD, PhD, Chantot-Bastaraud, Sandra, MD, Depienne, Christel, PhD, Nava, Caroline, MD, PhD, Mignot, Cyril, MD, PhD, Jacquette, Aurélia, MD, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, MD, Whalen, Sandra, MD, Lacombe, Didier, MD, PhD, Naudion, Sophie, MD, Rooryck, Caroline, MD, PhD, Toutain, Annick, MD, PhD, Caignec, Cédric Le, MD, PhD, Haye, Damien, MD, Olivier-Faivre, Laurence, MD, PhD, Masurel-Paulet, Alice, MD, Thauvin-Robinet, Christel, MD, PhD, Lesne, Fabien, CRA, Faudet, Anne, CRA, Ville, Dorothée, MD, des Portes, Vincent, MD, PhD, Sanlaville, Damien, MD, PhD, Siffroi, Jean-Pierre, MD, PhD, Moutard, Marie-Laure, MD, Héron, Delphine, MD

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In Vivo Potentialities of EWS-Fli-1 Targeted Antisense Oligonucleotides-Nanospheres Complexes von MAKSIMENKO, ANDREI, POLARD, VALERIE, VILLEMEUR, MARIE, ELHAMESS, HIND, COUVREUR, PATRICK, BERTRAND, JEAN-REMI, ABOUBAKAR, MALAM, GOTTIKH, MARINA, MALVY, CLAUDE

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Nécropoles protohistoriques du Sénonais: Serbonnes / La Créole’ Michery / La Longue Raie’ Soucy / Mocques Bouteilles (Yonne)

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Clinical breakage, slippage and acceptability of a new commercial polyurethane condom: a randomized, controlled study von Potter, W.D, de Villemeur, Maxence

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Mortality in French people with polyhandicap/profound intellectual and multiple disabilities von Hamouda, I., Baumstarck, K., Aim, M.‐A., Beltran Anzola, A., Loundou, A., Billette de Villemeur, T., Boyer, L., Auquier, P., Rousseau, M.‐C.

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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients von Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.‐L., Guët, A., Xavier, J., Périsse, D., Cohen, D., Demurger, F., Quélin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., Mignot, C.

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Single molecule microscopy reveals key physical features of repair foci in living cells von Miné-Hattab, Judith, Heltberg, Mathias, Villemeur, Marie, Guedj, Chloé, Mora, Thierry, Walczak, Aleksandra M, Dahan, Maxime, Taddei, Angela

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Hygiene promotion might be better than serological screening to deal with Cytomegalovirus infection during pregnancy: a methodological appraisal and decision analysis von Billette de Villemeur, Agathe, Tattevin, Pierre, Salmi, Louis-Rachid

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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder von Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A., Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, de Villemeur, Thierry B., Volker-Touw, Catharina M.L., Verbeek, Nienke, van der Smagt, Jasper J., Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni B., Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

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Health issues in polyhandicapped patients according to age: Results of a large French cross-sectional study von Rousseau, M.-C., Baumstarck, K., Khaldi-Cherif, N., Felce, A., Valkov, M., Brisse, C., Loundou, A., Auquier, P., Billette de Villemeur, T.

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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations von PASSEMARD, S, TITOMANLIO, L, GUIMIOT, F, HYON, C, ISIDOR, B, MEGARBANE, A, MOOG, U, ODENT, S, HERNANDEZ, K, POUVREAU, N, SCALA, I, SCHAER, M, ELMALEH, M, GRESSENS, P, GERARD, B, VERLOES, A, AFENJAR, A, ALESSANDRI, J.-L, ANDRIA, G, BILLETTE DE VILLEMEUR, T, BOESPFLUG-TANGUY, O, BURGLEN, L, DEL GIUDICE, E

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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study von Keil, Stefanie, Anjema, Karen, van Spronsen, Francjan J, Lambruschini, Nilo, Burlina, Alberto, Bélanger-Quintana, Amaya, Couce, Maria L, Feillet, Francois, Cerone, Roberto, Lotz-Havla, Amelie S, Muntau, Ania C, Bosch, Annet M, Meli, Concetta A P, Billette de Villemeur, Thierry, Kern, Ilse, Riva, Enrica, Giovannini, Marcello, Damaj, Lena, Leuzzi, Vincenzo, Blau, Nenad

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.

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Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum von Ewenczyk, C., Leroux, A., Roubergue, A., Laugel, V., Afenjar, A., Saudubray, J. M., Beauvais, P., de Villemeur, T. Billette, Vidailhet, M., Roze, E.

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Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease von Franco, Melanie, Collec, Emmanuel, Connes, Philippe, van den Akker, Emile, Billette de Villemeur, Thierry, Belmatoug, Nadia, von Lindern, Marieke, Ameziane, Nejma, Hermine, Olivier, Colin, Yves, Le Van Kim, Caroline, Mignot, Cyril

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Development and initial validation of the polyhandicap severity scale von Rousseau, M.-C., Baumstarck, K., Hamouda, I., Valkov, M., Felce, A., Khaldi-Cherif, S., Brisse, C., Loundou, A., Auquier, P., Billette de Villemeur, T.

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Clinical characteristics of COVID-19 infection in polyhandicapped persons in France von Rousseau, M.-C., Hully, M., Milh, M., Juzeau, D., Pollez, B., Peudenier, S., Bahi Buisson, N., Gautheron, V., Chabrol, B., Billette de Villemeur, T.

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