HLA-G expression in human embryonic stem cells and preimplantation embryos von Verloes, An, Van de Velde, Hilde, LeMaoult, Joel, Mateizel, Ileana, Cauffman, Greet, Horn, Peter A, Carosella, Edgardo D, Devroey, Paul, De Waele, Marc, Rebmann, Vera, Vercammen, Martine

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Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study von Grosskreutz, Julian, Mantegazza, Renato, Vu, Tuan, Gayfieva, Maryam, Berube, Maxime, Bril, Vera, Ng, Eduardo, Siddiqi, Zaeem, Tyblova, Michaela, Jakubikova, Michala, Witting, Nanna, Stemmerik, Mads, Andersen, Henning, Mathis, Stéphane, Tranchant, Christine, Messai, Sihame, Nadaj-Pakleza, Aleksandra, Stojkovic, Tanya, Querin, Giorgia, Weiss, Nicolas, Magy, Laurent, Hänsel, Eike, Teußer, Lars-Malte, Hagenacker, Tim, Blaes, Franz, Schwarz, Margret, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Tuccillo, Francesco, Umehara, Haruna, Higashi, Keiko, Nakamura, Noriko, Kubota, Tomoya, Yamamoto, Sana, Yokoyama, Kazumasa, Oji, Yutaka, Uzawa, Akiyuki, Sanko, Miki, Nakayama, Mayumi, Masuda, Masayuki, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Fukushige, Yuri, Yoshimura, Shunsuke, Hirayama, Takuro, Okamoto, Naoko, Sekiguchi, Kenji, Chihara, Norio, Suzuki, Shigeaki, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Ono, Hirohiko, Sugimoto, Takamichi, Kitowska, Monika, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Novikova, Ekaterina, Sidorova, Olga, Malkova, Nadezhda, Korobko, Denis, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Casasnovas, Carlos, Querol Gutiérrez, Luis, Canovas Segura, Anna, Juntas Morales, Raúl, Llufriú Durán, Sara, Gutiérrez Gutiérrez, Gerardo, Yeh, Jiann-Horng, Lee, Mei Fen, Akhter, Salma, Lam, Lucy, Holzberg, Shara, Ashworth, Lisa, Bender, Kathryn, Gandhi Mehta, Rachana, Miller, Gina, Smith, Rose, Rosow, Laura, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Padgett, Denny, Sorenson, Eric, Baras, Gelasio, Mahuwala, Zabeen, Ryan, Stephen, Sharma, Khema

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Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966 von Bergqvist, Christina, Servy, Amandine, Valeyrie-Allanore, Laurence, Ferkal, Salah, Combemale, Patrick, Wolkenstein, Pierre

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Human trophectoderm cells are not yet committed von De Paepe, Caroline, Cauffman, Greet, Verloes, An, Sterckx, Johan, Devroey, Paul, Tournaye, Herman, Liebaers, Inge, Van de Velde, Hilde

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data von Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E L M, de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Picó, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvó, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi

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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting von Soilly, A L, Robert-Viard, C, Besse, C, Bruel, A L, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, M L, Deleuze, J F, Binquet, C, Thauvin-Robinet, C, Lejeune, C

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Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1 von Pacot, Laurence, Sabbagh, Audrey, Sohier, Pierre, Hadjadj, Djihad, Ye, Manuela, Boland-Auge, Anne, Bacq-Daian, Delphine, Laurendeau, Ingrid, Briand-Suleau, Audrey, Deleuze, Jean-François, Margueron, Raphaël, Vidaud, Michel, Ferkal, Salah, Parfait, Béatrice, Vidaud, Dominique, Pasmant, Eric, Wolkenstein, Pierre

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis von de Boer, Elke, Ockeloen, Charlotte W, Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J, Coenen, Marieke J H, Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E L M

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing von Banka, Siddharth, Ciolfi, Andrea, Dallapiccola, Bruno, Gilissen, Christian, López-Martín, Estrella, Ryba, Lukas, Tartaglia, Marco, Thevenon, Julien, Tran Mau-Them, Frédéric, Votypka, Pavel, Faivre, Laurence, Gilissen, Christian, Jackson, Adam, Kleefstra, Tjitske, Santen, Gijs W.E., Verloes, Alain, Votypka, Pavel, Gao, Fei, Johari, Mridul, Morsy, Heba, Robinson, Peter, Zurek, Birte, Kegele, Josua, Scheffer, Hans, van de Warrenburg, Bart, Steehouwer, Marloes, Maddi, Vatsalya, Riaz, Umar, Dizjikan, Farid Yavari, Straub, Volker, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Gumus, Gulcin, Lagorce, David, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Evangelista, Teresinha, Metay, Corinne, Eymard, Bruno, Thomas, Coline, Spalding, Dylan, Magrinelli, Francesca, Sisodiya, Sanjay M., Zaharieva, Irina, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Piluso, Giulio, Rossi, Rachele, Matos, Ana Rita, Gullo, Irene, Fernandes, Susana, Zonneveld-Huijssoon, Eveline, van Gijn, Marielle, Mignot, Cyril, Lacombe, Didier, Holinski-Feder, Elke, Cilio, Maria-Roberta, Depondt, Chantal, Lederer, Damien, Mary, Sandrine, Pérez-Dueñas, Belén, Masó, Laura Batlle, Hemelsoet, Dimitri, Depienne, Christel, Iacomino, Michele, Scala, Marcello, Bourbouli, Mara, Radio, Francesca Clementina, De la Paz, Manuel Posada, Alonso García de la Rosa, F. Javier, Guerrini, Renzo, Chinnery, Patrick F., Schon, Katherine, Münchau, Alexander, Pauly, Martje, Toutain, Annick, Molin, Arnaud, Jouret, Béatrice, Laudier, Béatrice, Bonniaud, Bertille, Paul, Carle, Schaefer, Élise, Colin, Estelle, Prieur, Fabienne, Alessandri, Jean-Luc, Martinovic, Jelena, Lambert, Laëtitia, Bournez, Marie, Cordier-Alex, Marie-Pierre, Fradin, Mélanie, Hanna, Nadine, Chassaing, Nicolas, Naudion, Sophie, Cusin, Véronica

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis von de Boer, Elke, Ockeloen, Charlotte W, Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J, Coenen, Marieke J H, Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E L M

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Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1 von Pasmant, Eric, Sabbagh, Audrey, Masliah-Planchon, Julien, Ortonne, Nicolas, Laurendeau, Ingrid, Melin, Lucie, Ferkal, Salah, Hernandez, Lucie, Leroy, Karen, Valeyrie-Allanore, Laurence, Parfait, Béatrice, Vidaud, Dominique, Bièche, Ivan, Lantieri, Laurent, Wolkenstein, Pierre, Vidaud, Michel

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Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients von Bergqvist, C., Fertitta, L., Ezzedine, K., Jannic, A., Zehou, O., Ferkal, S., Combemale, P., Barbarot, S., Mazereeuw‐Hautier, J., Sbidian, E., Wolkenstein, P., Adamski, Henri, Baumann‐Morel, Clarisse, Bellanné, Christine, Bieth, Eric, Bousquet, Pascal, Brandt, Christian, Balguerie, Xavier, Castelnau, Pierre, Chaix, Yves, Chevrant‐Breton, Jacqueline, Collet, Evelyne, Cuny, Jean‐François, Chastagner, Pascal, Chandeclerc, Marie‐Lorraine, Cheuret, Emmanuel, Cintas, Pascal, Dollfus, Helene, Derancourt, Christian, Drouin‐Garraud, Valérie, d'Incan, Michel, De Leersnyder, Hélène, Dereure, Olivier, Doumar, Diane, Fabre, Nicolas, Ferraro, Vincenza, Francannet, Christine, Faivre, Laurence, Fellmann, Florence, Feugier, Nathalie, Gaillard, Dominique, Goldenberg, Alice, Guyant‐Marechal, Lucie, Guillot, Bernard, Guillamo, Jean‐Sebastien, Hadj‐Rabia, Smaïl, Hamel‐Teillac, Dominique, Kemlin, Isabelle, Lacour, Jean‐Philippe, Laithier, Veronique, Lesavre, Nathalie, Lyonnet, Stanislas, Maincent, Kim, Maradeix, Sophie, Machet, Laurent, Mansat, Eva, Meyer, Nicolas, Mozelle, Monique, Celine Moret, Jean Christophe Moreno, Puzenat, Eric, Parfait, Béatrice, Pinson, Stéphane, Pasmant, Eric, Rodriguez, Diana, Stalder, Jean‐François, Schweitzer, Elisabeth, Thalamas, Claire, Thauvin, Christel, Vidaud, Dominique, Vidaud, Michel, Verloes, Alain, Zeller, Jacques

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Critical role of N-cadherin in myofibroblast invasion and migration in vitro stimulated by colon-cancer-cell-derived TGF-beta or wounding von De Wever, Olivier, Westbroek, Wendy, Verloes, An, Bloemen, Nele, Bracke, Marc, Gespach, Christian, Bruyneel, Erik, Mareel, Marc

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Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1 von Sabbagh, Audrey, Pasmant, Eric, Laurendeau, Ingrid, Parfait, Béatrice, Barbarot, Sébastien, Guillot, Bernard, Combemale, Patrick, Ferkal, Salah, Vidaud, Michel, Aubourg, Patrick, Vidaud, Dominique, Wolkenstein, Pierre

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An ontological foundation for ocular phenotypes and rare eye diseases von Sergouniotis, Panagiotis I, Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N, Dollfus, Hélène

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders von Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Cilio, Maria Roberta, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von de Boer, Elke, Yaldiz, Burcu, Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, Laurie, Steve, Steyaert, Wouter, de Reuver, Rick, Gilissen, Christian, Kwint, Michael, Pfundt, Rolph, Verloes, Alain, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., Kleefstra, Tjitske, Vissers, Lisenka E.L.M., Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina

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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies von Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Luigi Ardissino, Gian, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Penzien, Johannes, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G, Attie-Bitach, Tania, Valente, Enza Maria

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Dysmorphology at a distance: results of a web-based diagnostic service von Douzgou, S, Clayton-Smith, J, Gardner, S, Day, R, Griffiths, P, Strong, K

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Can soluble human leucocyte antigen-G predict successful pregnancy in assisted reproductive technology? von Vercammen, Martine, Verloes, An, Haentjens, Patrick, Van de Velde, Hilde

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