Further delineation of the phenotype caused by biallelic variants in the WDR4 gene von Trimouille, A., Lasseaux, E., Barat, P., Deiller, C., Drunat, S., Rooryck, C., Arveiler, B., Lacombe, D.

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IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences von Brischoux‐Boucher, E., Trimouille, A., Baujat, G., Goldenberg, A., Schaefer, E., Guichard, B., Hannequin, P., Paternoster, G., Baer, S., Cabrol, C., Weber, E., Godfrin, G., Lenoir, M., Lacombe, D., Collet, C., Van Maldergem, L.

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Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1 von Prudhomme, L., Delleci, C., Trimouille, A., Chateil, J.F., Prodhomme, O., Goizet, C., Van Gils, J.

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Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma von Trimouille, A., Barouk‐Simonet, E., Charron, S., Bouron, J., Bernhard, J.‐C., Lacombe, D., Fergelot, P., Rooryck, C.

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Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes von Demidov, German, Laurie, Steven, Torella, Annalaura, Piluso, Giulio, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Graessner, Holm, Banka, Siddharth, Lohmann, Katja, Ossowski, Stephan

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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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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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Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1: Eur J Med Genet von Prudhomme, L., Delleci, Claire, Trimouille, A., Chateil, J. F., Prodhomme, O., Goizet, C., van Gils, J.

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Des variants hot-spot hétérozygotes de SREBF1 responsables de la dysplasie mucoépithéliale héréditaire von Morice-Picard, F., Labreze, C., Michaud, V., Bessis, D., Lasseaux, E., Taieb, A., Trimouille, A., Boralevi, F.

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Syndrome de Wells et cutis laxa acquise : une association atypique von Bouquerel, M.M., Dequidt, L., Jullie, M.-L., Gibier, J.-B., Lefevre, G., Dezoteux, F., Morice-Picard, F., Trimouille, A., Doutre, M.-S.

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Étude d’une grande cohorte de patients atteints d’albinisme oculocutané von Lasseaux, E., Morice-Picard, F., Plaisant, C., Moutton, S., Trimouille, A., Deves, S., Rooryck-Thambo, C., Lacombe, D., Taieb, A., Arveiler, B.

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De novo variants in ATP2B1 lead to neurodevelopmental delay von Rahimi, M.J., Urban, N., Wegler, M., Sticht, H., Schaefer, M., Popp, B., Gaunitz, F., Morleo, M., Nigro, V., Maitz, S., Mancini, G.M.S., Ruivenkamp, C., Suk, E.K., Bartolomaeus, T., Merkenschlager, A., Koboldt, D., Bartholomew, D., Stegmann, A.P.A., Sinnema, M., Duynisveld, I., Salvarinova, R., Race, S., Vries, B.B.A. de, Trimouille, A., Naudion, S., Marom, D., Hamiel, U., Henig, N., Demurger, F., Rahner, N., Bartels, E., Hamm, J.A., Putnam, A.M., Person, R., Abou Jamra, R., Oppermann, H.

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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 Denommé-Pichon, AS, Bruel, AL, Duffourd, Y, Safraou, H, Thauvin-Robinet, C, Tran Mau-Them, F, Philippe, C, Vitobello, A, Jean-Marçais, N, Moutton, S, Thevenon, J, Faivre, L, Matalonga, L, de Boer, E, Gilissen, C, Hoischen, A, Kleefstra, T, Pfundt, R, de Vries, BBA, Willemsen, MH, Vissers, LELM, Jackson, A, Banka, S, Clayton-Smith, J, Benetti, E, Fallerini, C, Renieri, A, Ciolfi, A, Dallapiccola, B, Pizzi, S, Radio, FC, Tartaglia, M, Ellwanger, K, Graessner, H, Haack, TB, Zurek, B, Havlovicova, M, Macek, M, Ryba, L, Schwarz, M, Votypka, P, López-Martín, E, Posada, M, Mencarelli, MA, Rooryck, C, Trimouille, A, Verloes, A, Abbott, KM, Kerstjens, M, Martín, EL, Maystadt, I, Morleo, M, Nigro, V, Pinelli, M

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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy von Sa, M.N.J., Venselaar, H., Wiel, L., Trimouille, A., Lasseaux, E., Naudion, S., Lacombe, D., Piton, A., Vincent-Delorme, C., Zweier, C., Reis, A., Trollmann, R., Ruiz, A., Gabau, E., Vetro, A., Guerrini, R., Bakhtiari, S., Kruer, M.C., Amor, D.J., Cooper, M.S., Bijlsma, E.K., Barakat, T.S., Dooren, M.F. van, Slegtenhorst, M. van, Pfundt, R., Gilissen, C., Willemsen, M.A., Vries, B.B.A. de, Brouwer, A.P.M. de, Koolen, D.A.

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care von Ivanovski, I., Djuric, O., Caraffi, S.G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D.M., Abdalla, E., Accorsi, P., Adam, M.P., Ajmone, P.F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., Brasi, D. de, Devriendt, K., Dinulos, M.B., Hjortshoj, T.D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Gronborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Rizzo, C. lo, Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Moller, R.S., Muschke, P., Nielsen, J.E.K., Obersztyn, E., Pantaleoni, C., Pellicciari, A., Pisanti, M.A., Prpic, I., Poch-Olive, M.L., Raviglione, F., Renieri, A., Ricci, E., Rivieri, F., Santen, G.W., Savasta, S., Scarano, G., Schanze, I., Selicorni, A., Silengo, M., Smigiel, R., Spaccini, L., Sorge, G., Szczaluba, K., Tarani, L., Tone, L.G., Toutain, A., Trimouille, A., Valera, E.T., Vergano, S.S., Zanotta, N., Zenker, M., Conidi, A., Zollino, M., Rauch, A., Zweier, C., Garavelli, L.

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Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma von Trimouille, A, Barouk-Simonet, E, Charron, S, Bouron, J, Bernhard, J-C, Lacombe, D, Fergelot, P, Rooryck, C

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Le préfet et le juge administratif von TRIMOUILLE, Carine

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Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I von Nuber, Franziska, Schimpf, Johannes, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah, Procaccio, Vincent, Martin-Negrier, Marie-Laure, Trimouille, Aurélien, Biner, Olivier, von Ballmoos, Christoph, Friedrich, Thorsten

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BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome von Pennamen, Perrine, Le, Linh, Tingaud-Sequeira, Angèle, Fiore, Mathieu, Bauters, Anne, Van Duong Béatrice, Nguyen, Coste, Valentine, Bordet, Jean-Claude, Plaisant, Claudio, Diallo, Modibo, Michaud, Vincent, Trimouille, Aurélien, Lacombe, Didier, Lasseaux, Eulalie, Delevoye, Cédric, Picard, Fanny Morice, Delobel, Bruno, Marks, Michael S., Arveiler, Benoit

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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum von Tingaud-Sequeira, Angèle, Trimouille, Aurélien, Salaria, Manju, Stapleton, Rachel, Claverol, Stéphane, Plaisant, Claudio, Bonneu, Marc, Lopez, Estelle, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

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