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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Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians von Guey, Stéphanie, Kraemer, Markus, Hervé, Dominique, Ludwig, Thomas, Kossorotoff, Manoëlle, Bergametti, Françoise, Schwitalla, Jan Claudius, Choi, Simone, Broseus, Lucile, Callebaut, Isabelle, Genin, Emmanuelle, Tournier-Lasserve, Elisabeth

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders von Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès

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Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3) von Feldmann, Jérôme, Callebaut, Isabelle, Raposo, Graça, Certain, Stéphanie, Bacq, Delphine, Dumont, Cécile, Lambert, Nathalie, Ouachée-Chardin, Marie, Chedeville, Gaëlle, Tamary, Hannah, Minard-Colin, Véronique, Vilmer, Etienne, Blanche, Stéphane, Le Deist, Françoise, Fischer, Alain, de Saint Basile, Geneviève

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Novel genes associated with isolated optic nerve hypoplasia in 6 family trios ‐ a clinical and exome study von Bitoun, P., Boland Auge, A., Bacq Daian, D., PIpiras, E., Benzacken, B., Kuzbari, S., Renault, V., Parfait, B., Deleuze, J.F.

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Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 von Faivre, L, Le Merrer, M, Al-Gazali, L I, Ausems, M G E M, Bitoun, P, Bacq, D, Maroteaux, P, Munnich, A, Cormier-Daire, V

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A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8 von Eidenschenk, Céline, Dunne, Jean, Jouanguy, Emmanuelle, Fourlinnie, Claire, Gineau, Laure, Bacq, Delphine, McMahon, Corrina, Smith, Owen, Casanova, Jean-Laurent, Abel, Laurent, Feighery, Conleth

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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin von Salomon, Rémi, Bacq, Delphine, Landthaler, Gilbert, Gribouval, Olivier, Silbermann, Flora, Antignac, Corinne, Milford, David, Mollet, Géraldine, Nayir, Ahmet, Rizzoni, Gianfranco, Saunier, Sophie

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Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation von Molinari, Florence, Rio, Marlène, Meskenaite, Virginia, Encha-Razavi, Férechté, Augé, Joelle, Bacq, Delphine, Briault, Sylvain, Vekemans, Michel, Munnich, Arnold, Attié-Bitach, Tania, Sonderegger, Peter, Colleaux, Laurence

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Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers von Sugier, Pierre‐Emmanuel, Lucotte, Elise A., Domenighetti, Cloé, Law, Matthew H., Iles, Mark M., Brown, Kevin, Amos, Christopher, McKay, James D., Hung, Rayjean J., Karimi, Mojgan, Bacq‐Daian, Delphine, Boland‐Augé, Anne, Olaso, Robert, Deleuze, Jean‐françois, Lesueur, Fabienne, Ostroumova, Evgenia, Kesminiene, Ausrele, Vathaire, Florent, Guénel, Pascal, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Grover, Sandeep, May, Patrick, Bobbili, Dheeraj R., Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Singleton, Andrew B., Hernandez, Dena G., Edsall, Connor, Mellick, George D., Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E., Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean‐Christophe, Chartier‐Harlin, Marie‐Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B., Hadjigeorgiou, Georges M., Dardiotis, Efthimios, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, Warrenburg, Bart P.C., Bloem, Bastiaan R., Aasly, Jan, Toft, Mathias, Pihlstrøm, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J., Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez‐Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy, Ran, Caroline, Belin, Andrea C., Puschmann, Andreas, Rödström, Emil Ygland, Clarke, Carl E., Morrison, Karen E., Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F., Farrer, Matt J., Kruger, Rejko, Gasser, Thomas, Sharma, Manu, Truong, Thérèse, Elbaz, Alexis

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Sex specific associations in genome wide association analysis of renal cell carcinoma von Laskar, Ruhina S, Muller, David C, Li, Peng, Machiela, Mitchell J, Ye, Yuanqing, Gaborieau, Valerie, Foll, Matthieu, Hofmann, Jonathan N, Colli, Leandro, Sampson, Joshua N, Wang, Zhaoming, Bacq-Daian, Delphine, Boland, Anne, Abedi-Ardekani, Behnoush, Durand, Geoffroy, Le Calvez-Kelm, Florence, Robinot, Nivonirina, Blanche, Helene, Prokhortchouk, Egor, Skryabin, Konstantin G, Burdett, Laurie, Yeager, Meredith, Radojevic-Skodric, Sanja, Savic, Slavisa, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Rascu, Stefan, Mukeria, Anush, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Świątkowska, Beata, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Trichopoulou, Antonia, Riboli, Elio, Overvad, Kim, Panico, Salvatore, Ljungberg, Borje, Sitaram, Raviprakash T, Giles, Graham G, Milne, Roger L, Severi, Gianluca, Bruinsma, Fiona, Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C, Wolk, Alicja, Banks, Rosamonde E, Selby, Peter J, Easton, Douglas F, Pharoah, Paul, Andreotti, Gabriella, Beane Freeman, Laura E, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E, Edwards, Todd L, Lipworth, Loren, Carol, Hallie, Freedman, Matthew L, Pomerantz, Mark M, Cho, Eunyoung, Kraft, Peter, Preston, Mark A, Wilson, Kathryn M, Michael Gaziano, J, Sesso, Howard D, Black, Amanda, Freedman, Neal D, Huang, Wen-Yi, Anema, John G, Kahnoski, Richard J, Lane, Brian R, Noyes, Sabrina L, Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L, Johnson, Lisa, Luo, Juhua, Chow, Wong-Ho, Moore, Lee E, Choueiri, Toni K, Wood, Christopher, Johansson, Mattias, McKay, James D, Brown, Kevin M

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La première étude d’association génome entier dans la neurofibromatose de type 1 : vers l’identification des modificateurs génétiques de l’expression clinique de la maladie... von Sabbagh, A., Pacot, L., Parfait, B., Boland-Auge, A., Bacq-Daian, D., Laurendeau, I., Ferkal, S., Briand, A., Allanore, L., Deleuze, J.F., Vidaud, M., Vidaud, D., Pasmant, E., Wolkenstein, P.

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Genetic associations between modifiable risk factors and Alzheimer disease von Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Céline, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo, Atahualpa, Parveen, Kayenat, Küçükali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jürgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Porcel, Laura Molina, Düzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimon, Jordi, Moreno, Fermin, Pérez-Tur, Jordi, Bullido, María J., Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M., Piñol-Ripoll, Gerard, García-Alberca, Jose María, Royo, Jose Luís, Rodriguez-Rodriguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, de Mendonça, Alexandre, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-François, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stéphanie, Grünblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramirez, Alfredo, Lambert, Jean-Charles, Frikke-Schmidt, Ruth

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Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation von Borck, G, Rio, M, Sanlaville, D, Redon, R, Molinari, F, Bacq, D, Raoul, O, Cormier-Daire, V, Lyonnet, S, Amiel, J, Merrer, M Le, De Blois, M-C, Prieur, M, Vekemans, M, Carter, NP, Munnich, A, Colleaux, L

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La première étude d’association génome entier dans la neurofibromatose de type 1 : vers l’identification de gènes modificateurs von Sabbagh, A., Parfait, B., Boland-Auge, A., Bacq-Daian, D., Ferkal, S., Allanore, L., Pasmant, E., Deleuze, J.-F., Vidaud, M., Vidaud, D., Wolkenstein, P.

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Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan: ESMO Open von Auzanneau, C., Bacq, D., Bellera, Carine, Blons, H., Boland, A., Boucheix, M., Bourdon, A., Chollet, E., Chomienne, C., Deleuze, J. F., Delmas, C., Dinart, D., Espérou, H., Geillon, F., Geneste, D., Italiano, A., Jean, Delphine, Khalifa, E., Laizet, Y., Laurent-Puig, P., Lethimonnier, F., Lévy-Marchal, C., Lucchesi, C., Malle, C., Mancini, P., Mathoulin-Pelissier, Simone, Meyer, V., Marie-Ange, P., Perkins, G., Sellan-Albert, S., Soubeyran, I., Wallet, Cedrick

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A Quantitative-Trait Locus in the Human Factor XII Gene Influences Both Plasma Factor XII Levels and Susceptibility to Thrombotic Disease von Soria, José Manuel, Almasy, Laura, Souto, Juan Carlos, Bacq, Delphine, Buil, Alfonso, Faure, Alexandra, Martínez-Marchán, Elisabeth, Mateo, José, Borrell, Montserrat, Stone, William, Lathrop, Mark, Fontcuberta, Jordi, Blangero, John

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Use of external controls for whole genome sequencing data - quality control considerations von Dandine-Roulland, C., Resch, L., Sandron, F., Sahbatou, M., Bacq-Daian, D., Blanché, H., Meyer, V., Deleuze, Jean-François, Le Floch, E.

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Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23 von Garnier, S, Harakalova, M, Weiss, S, Mokry, M, Regitz-Zagrosek, V, Hengstenberg, C, Cappola, TP, Isnard, R, Arbustini, E, Cook, SA, Van Setten, J, Calis, JJA, Hakonarson, H, Morley, MP, Stark, K, Prasad, SK, Li, J, O'Regan, DP, Grasso, M, Mueller-Nurasyid, M, Meitinger, T, Empana, J-P, Strauch, K, Waldenberger, M, Marguiles, KB, Seidman, CE, Kararigas, G, Meder, B, Haas, J, Boutouyrie, P, Lacolley, P, Jouven, X, Erdmann, J, Blankenberg, S, Wichter, T, Ruppert, V, Tavazzi, L, Dubourg, O, Roizes, G, Dorent, R, De Groote, P, Fauchier, L, Trochu, J-N, Aupetit, J-F, Bilinska, ZT, Germain, M, Voelker, U, Hemerich, D, Raji, I, Bacq-Daian, D, Proust, C, Remior, P, Gomez-Bueno, M, Lehnert, K, Maas, R, Olaso, R, Saripella, GV, Felix, SB, McGinn, S, Duboscq-Bidot, L, Van Mil, A, Besse, C, Fontaine, V, Blanche, H, Ader, F, Keating, B, Curjol, A, Boland, A, Komajda, M, Cambien, F, Deleuze, J-F, Doerr, M, Asselbergs, FW, Villard, E, Tregoueet, D-A, Charron, P

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Carbon balance assessment of a Belgian winter wheat crop (Triticum aestivum L.) von MOUREAUX, CHRISTINE, DEBACQ, ALAIN, HOYAUX, JULIEN, SULEAU, MARIE, TOURNEUR, DENIS, VANCUTSEM, FRANÇOISE, BODSON, BERNARD, AUBINET, MARC

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