Discovery and mapping of a new expressed sequence tag-single nucleotide polymorphism and simple sequence repeat panel for large-scale genetic studies and breeding of Theobroma caca... by Allegre, Mathilde, Argout, Xavier, Boccara, Michel, Fouet, Olivier, Roguet, Yolande, Bérard, Aurélie, Thévenin, Jean Marc, Chauveau, Aurélie, Rivallan, Ronan, Clement, Didier, Courtois, Brigitte, Gramacho, Karina, Boland-Augé, Anne, Tahi, Mathias, Umaharan, Pathmanathan, Brunel, Dominique, Lanaud, Claire

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Novel genes associated with isolated optic nerve hypoplasia in 6 family trios ‐ a clinical and exome study by 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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A novel locus for autosomal recessive spastic ataxia on chromosome 17p by BOUSLAM, Naima, BOUHOUCHE, Ahmed, BRICE, Alexis, YAHYAOUI, Mohamed, STEVANIN, Giovanni, BENOMAR, Ali, HANEIN, Sylvain, KLEBE, Stephan, AZZEDINE, Hamid, DI GIANDOMENICO, Silvia, BOLAND-AUGE, Anne, SANTORELLI, Filippo M, DURR, Alexandra

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RNA signature and prediction to treatment response in first episode schizophrenia by Troudet, R., Bel Haj Ali, W., Barau, C., Boland-Auge, A., Deleuze, J.F., Leboyer, M., Jamain, S.

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P.1.a.035 - RNA signature and prediction to treatment response in first episode schizophrenia by Troudet, R., Bel Haj Ali, W., Barau, C., Boland-Auge, A., Deleuze, J.F., Leboyer, M., Jamain, S.

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M - 3 Identification d’une nouvelle forme d’Ataxie Spastique autosomique récessive by Bouslam, N., Bouhouche, A., Benomar, A., Hanein, S., Klebe, S., Azzedine, H., Di Giandomenico, S., Boland-Augé, A., Santorelli, F.M., Durr, A., Brice, A., Yahyaoui, M., Stevanin, G.

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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... by 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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La première étude d’association génome entier dans la neurofibromatose de type 1 : vers l’identification de gènes modificateurs by 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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Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy by COENEN, Marieke J. H, HOFSTRA, Julia M, MATHIESON, Peter W, BRENCHLEY, Paul E, KLETA, Robert, WETZELS, Jack F. M, RONCO, Pierre, DEBIEC, Hanna, STANESCU, Horia C, MEDLAR, Alan J, STENGEL, Bénédicte, BOLAND-AUGE, Anne, GROOTHUISMINK, Johanne M, BOCKENHAUER, Detlef, POWIS, Steve H

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Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma by Kulkarni, Om, Sugier, Pierre-Emmanuel, Guibon, Julie, Boland-Augé, Anne, Lonjou, Christine, Bacq-Daian, Delphine, Olaso, Robert, Rubino, Carole, Souchard, Vincent, Rachedi, Frédérique, Lence-Anta, Juan Jesus, Ortiz, Rosa Maria, Xhaard, Constance, Laurent-Puig, Pierre, Mulot, Claire, Guizard, Anne-Valérie, Schvartz, Claire, Boutron-Ruault, Marie-Christine, Ostroumova, Evgenia, Kesminiene, Ausrele, Deleuze, Jean-François, Guénel, Pascal, De Vathaire, Florent, Truong, Thérèse, Lesueur, Fabienne

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A form of muscular dystrophy associated with pathogenic variants in JAG2 by Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Beiraghi Toosi, Mehran, Ghayoor Karimiani, Ehsan, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.

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Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease by Jiao, Yue, Truong, Thérèse, Eon-Marchais, Séverine, Mebirouk, Noura, Caputo, Sandrine M., Dondon, Marie-Gabrielle, Karimi, Mojgan, Le Gal, Dorothée, Beauvallet, Juana, Le Floch, Édith, Dandine-Roulland, Claire, Bacq-Daian, Delphine, Olaso, Robert, Albuisson, Juliette, Audebert-Bellanger, Séverine, Berthet, Pascaline, Bonadona, Valérie, Buecher, Bruno, Caron, Olivier, Cavaillé, Mathias, Chiesa, Jean, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Delnatte, Capucine, De Pauw, Antoine, Dreyfus, Hélène, Fert-Ferrer, Sandra, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Golmard, Lisa, Lasset, Christine, Lejeune-Dumoulin, Sophie, Léoné, Mélanie, Limacher, Jean-Marc, Lortholary, Alain, Luporsi, Élisabeth, Mari, Véronique, Maugard, Christine M., Mortemousque, Isabelle, Mouret-Fourme, Emmanuelle, Nambot, Sophie, Noguès, Catherine, Popovici, Cornel, Prieur, Fabienne, Pujol, Pascal, Sevenet, Nicolas, Sobol, Hagay, Toulas, Christine, Uhrhammer, Nancy, Vaur, Dominique, Venat, Laurence, Boland-Augé, Anne, Guénel, Pascal, Deleuze, Jean-François, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

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A form of muscular dystrophy associated with pathogenic variants in JAG2 by Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.

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Investigation of common genetic risk factors between thyroid traits and breast cancer by Lucotte, Elise A, Asgari, Yazdan, Sugier, Pierre-Emmanuel, Karimi, Mojgan, Domenighetti, Cloé, Lesueur, Fabienne, Boland-Augé, Anne, Ostroumova, Evgenia, de Vathaire, Florent, Zidane, Monia, Guénel, Pascal, Deleuze, Jean-François, Boutron-Ruault, Marie-Christine, Severi, Gianluca, Liquet, Benoît, Truong, Thérèse

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Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications by Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da’as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

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Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2 by Zhu, Gaofeng, Badonyi, Mihaly, Franklin, Lina, Seabra, Luis, Rice, Gillian I., Anne-Boland-Auge, Deleuze, Jean-François, El-Chehadeh, Salima, Anheim, Mathieu, de Saint-Martin, Anne, Pellegrini, Sandra, Marsh, Joseph A., Crow, Yanick J., El-Daher, Marie-Therese

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Multiethnic genome‐wide association study of differentiated thyroid cancer in the EPITHYR consortium by Truong, Thérèse, Lesueur, Fabienne, Sugier, Pierre‐Emmanuel, Guibon, Julie, Xhaard, Constance, Karimi, Mojgan, Kulkarni, Om, Lucotte, Elise A., Bacq‐Daian, Delphine, Boland‐Auge, Anne, Mulot, Claire, Laurent‐Puig, Pierre, Schvartz, Claire, Guizard, Anne‐Valérie, Ren, Yan, Adjadj, Elisabeth, Rachédi, Frédérique, Borson‐Chazot, Francoise, Ortiz, Rosa Maria, Lence‐Anta, Juan J., Pereda, Celia María, Comiskey, Daniel F., He, Huiling, Liyanarachchi, Sandya, Chapelle, Albert, Elisei, Rossella, Gemignani, Federica, Thomsen, Hauke, Forsti, Asta, Herzig, Anthony F., Leutenegger, Anne‐Louise, Rubino, Carole, Ostroumova, Evgenia, Kesminiene, Ausrele, Boutron‐Ruault, Marie‐Christine, Deleuze, Jean‐François, Guénel, Pascal, Vathaire, Florent

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iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells by Mouka, Aurélie, Arkoun, Brahim, Moison, Pauline, Drévillon, Loïc, Jarray, Rafika, Brisset, Sophie, Mayeur, Anne, Bouligand, Jérôme, Boland-Auge, Anne, Deleuze, Jean-François, Yates, Frank, Lemonnier, Thomas, Callier, Patrick, Duffourd, Yannis, Nitschke, Patrick, Ollivier, Emmanuelle, Bourdin, Arnaud, De Vos, John, Livera, Gabriel, Tachdjian, Gérard, Maouche-Chrétien, Leïla, Tosca, Lucie

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A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum by Boukhris, Amir, Feki, Imed, Elleuch, Nizar, Miladi, Mohamed Imed, Boland-Augé, Anne, Truchetto, Jérémy, Mundwiller, Emeline, Jezequel, Nadia, Zelenika, Diana, Mhiri, Chokri, Brice, Alexis, Stevanin, Giovanni

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Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers by 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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