Genetic Biodiversity of Mycobacterium tuberculosis Complex Strains from Patients with Pulmonary Tuberculosis in Cameroon by NIOBE-EYANGOH, Sara Ngo, KUABAN, Christopher, SORLIN, Philippe, CUNIN, Patrick, THONNON, Jocelyn, SOLA, Christophe, RASTOGI, Nalin, VINCENT, Veronique, GUTIERREZ, M. Cristina

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Molecular Characteristics of Strains of the Cameroon Family, the Major Group of Mycobacterium tuberculosis in a Country with a High Prevalence of Tuberculosis by NIOBE-EYANGOH, Sara Ngo, KUABAN, Christopher, SORLIN, Philippe, THONNON, Jocelyn, VINCENT, Veronique, GUTIERREZ, M. Cristina

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Biofilm Formation by Staphylococcus aureus in the Specific Context of Cystic Fibrosis by Jean-Pierre, Vincent, Boudet, Agathe, Sorlin, Pauline, Menetrey, Quentin, Chiron, Raphaël, Lavigne, Jean-Philippe, Marchandin, Hélène

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Biofilm Formation in Methicillin-Resistant Staphylococcus aureus Isolated in Cystic Fibrosis Patients Is Strain-Dependent and Differentially Influenced by Antibiotics by Boudet, Agathe, Sorlin, Pauline, Pouget, Cassandra, Chiron, Raphaël, Lavigne, Jean-Philippe, Dunyach-Remy, Catherine, Marchandin, Hélène

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NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients by Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle

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Commercially available tests for determining cefiderocol susceptibility display variable performance in the Achromobacter genus by Jean-Pierre, Vincent, Sorlin, Pauline, Jeannot, Katy, Chiron, Raphaël, Lavigne, Jean-Philippe, Pantel, Alix, Marchandin, Hélène

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OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway by Bourgon, N., Carmignac, V., Sorlin, A., Duffour, Y., Philippe, C., Thauvin, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P.

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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy by Mattison, Kari A, Tossing, Gilles, Mulroe, Fred, Simmons, Callum, Butler, Kameryn M, Schreiber, Alison, Alsadah, Adnan, Neilson, Derek E, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Sorlin, Arthur, McCann, Emma, Burghel, George J, Menendez, Beatriz, Hoganson, George E, Botto, Lorenzo D, Filloux, Francis M, Aledo-Serrano, Ángel, Gil-Nagel, Antonio, Tatton-Brown, Katrina, Verbeek, Nienke E, van der Zwaag, Bert, Aleck, Kyrieckos A, Fazenbaker, Andrew C, Balciuniene, Jorune, Dubbs, Holly A, Marsh, Eric D, Garber, Kathryn, Ek, Jakob, Duno, Morten, Hoei-Hansen, Christina E, Deardorff, Matthew A, Raca, Gordana, Quindipan, Catherine, van Hirtum-Das, Michele, Breckpot, Jeroen, Hammer, Trine Bjørg, Møller, Rikke S, Whitney, Andrea, Douglas, Andrew G L, Kharbanda, Mira, Brunetti-Pierri, Nicola, Morleo, Manuela, Nigro, Vincenzo, May, Halie J, Tao, James X, Argilli, Emanuela, Sherr, Elliot H, Dobyns, William B, Baines, Richard A, Warwicker, Jim, Parker, J Alex, Banka, Siddharth, Campeau, Philippe M, Escayg, Andrew

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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations by Theiler, M., Weibel, L., Christen‐Zaech, S., Carmignac, V., Sorlin, A., Neuhaus, K., Chevarin, M., Thauvin‐Robinet, C., Philippe, C., Faivre, L., Vabres, P., Kuentz, P.

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Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications by Foster, Alison, Chalot, Basile, Antoniadi, Thalia, Schaefer, Elise, Keelagher, Rebecca, Ryan, Gavin, Thomas, Quentin, Philippe, Christophe, Bruel, Ange‐Line, Sorlin, Arthur, Thauvin‐Robinet, Christel, Bardou, Marc, Luu, Maxime, Quenardelle, Veronique, Wolff, Valerie, Woodley, Jessica, Vabres, Pierre, Lim, Derek, Igbokwe, Rebecca, Joseph, Annie, Walker, Harriet, Jester, Andrea, Ellenbogen, Jonathan, Johnson, Diana, Rooke, Bethanie, Moss, Celia, Cole, Trevor, Faivre, Laurence

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Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway by Bourgon, N., Carmignac, V., Sorlin, A., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Guibaud, L., Faivre, L., Vabres, P., Kuentz, P., Tisserand, Emilie, Chevarin, Martin, Delanne, Julian, Jouan, Thibaud, Pöe, Charlotte, Abel, Carine, Allory, Patrick, Amram, Daniel, Attie‐Bitach, Tania, Aziza, Jacqueline, Benevent, Jean‐Baptiste, Bidat, Laurent, Bessières, Bettina, Boussion, Françoise, Cabaret‐Dufour, Anne‐Sophie, Chanoz‐Poulard, Geneviève, Chassaing, Nicolas, Ciorna‐Monferrato, Viorica, Cordier, Anne‐Gaëlle, Cordier, Marie‐Pierre, Cuillier, Fabrice, Doray, Berenice, Encha‐Razavi, Ferechte, Eszto, Marie‐Laure, Bianco, Catherine Fallet, Fernandez, Carla, Ferry, Mathilde, Fichez, Axel, Vequeau, Valérie Goua, Grevent, David, Guichet, Agnès, Laurent, Nicole, Le Gac, Marie‐Pascale, Lefebvre, Mathilde, Letard, Pascaline, Loget, Philippe, Loisel, Didier, Martinovich, Jelena, Masutti, Jean‐Paul, Millischer, Anne‐Elodie, Musizzano, Yuri, Nord, Jean‐François, Perez, Marie‐Josée, Prieur, Fabienne, Proisy, Maia, Quelin, Chloé, Roth, Philippe, Rousseau, Thierry, Salomon, Laurent, Sonigo, Pascale, Spaggiari, Emmanuel, Stempfle, Noëlle, Stirnemann, Julien, Tanteau, Julia, Triau, Stéphane, Vasiljevic, Alexandre, Ville, Yves, Zidane‐Marinnes, Merzouka, Kaltenbach, Sophie, Rivière, Jean‐Baptiste

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy by Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril

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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network by Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, Thauvin-Robinet, Christel

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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests by Thauvin-Robinet, Christel, Thevenon, Julien, Nambot, Sophie, Delanne, Julian, Kuentz, Paul, Bruel, Ange-Line, Chassagne, Aline, Cretin, Elodie, Pelissier, Aurore, Peyron, Chritine, Gautier, Elodie, Lehalle, Daphné, Jean-Marçais, Nolwenn, Callier, Patrick, Mosca-Boidron, Anne-Laure, Vitobello, Antonio, Sorlin, Arthur, Tran Mau-Them, Frédéric, Philippe, Christophe, Vabres, Pierre, Demougeot, Laurent, Poé, Charlotte, Jouan, Thibaud, Chevarin, Martin, Lefebvre, Mathilde, Bardou, Marc, Tisserant, Emilie, Luu, Maxime, Binquet, Christine, Deleuze, Jean-François, Verstuyft, Céline, Duffourd, Yannis, Faivre, Laurence

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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed deve... by Tran Mau-Them, Frederic, Moutton, Sebastien, Racine, Caroline, Vitobello, Antonio, Bruel, Ange-Line, Nambot, Sophie, Kushner, Steven A., de Vrij, Femke M. S., Lehalle, Daphné, Jean-Marçais, Nolwenn, Lecoquierre, François, Delanne, Julian, Thevenon, Julien, Poe, Charlotte, Jouan, Thibaut, Chevarin, Martin, Geneviève, David, Willems, Marjolaine, Coubes, Christine, Houcinat, Nada, Masurel-Paulet, Alice, Mosca-Boidron, Anne-Laure, Tisserant, Emilie, Callier, Patrick, Sorlin, Arthur, Duffourd, Yannis, Faivre, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel

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Cefiderocol susceptibility of Achromobacter spp.: study of an accurately identified collection of 230 strains by Jean-Pierre, Vincent, Sorlin, Pauline, Pantel, Alix, Chiron, Raphaël, Lavigne, Jean-Philippe, Jeannot, Katy, Marchandin, Hélène

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Expanding the clinical spectrum of mosaic BRAF skin phenotypes by Sorlin, A., Carmignac, V., Amiel, J., Boccara, O., Fraitag, S., Maruani, A., Theiler, M., Weibel, L., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P., Kuentz, P.

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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials by Garde, Aurore, Guibaud, Laurent, Goldenberg, Alice, Petit, Florence, Dard, Rodolphe, Roume, Joelle, Mazereeuw‐Hautier, Juliette, Chassaing, Nicolas, Lacombe, Didier, Morice‐Picard, Fanny, Toutain, Annick, Arpin, Stéphanie, Boccara, Olivia, Touraine, Renaud, Blanchet, Patricia, Coubes, Christine, Willems, Marjolaine, Pinson, Lucile, Van Kien, Philippe Khau, Chiaverini, Christine, Giuliano, Fabienne, Alessandri, Jean‐Luc, Mathieu‐Dramard, Michèle, Morin, Gilles, Bursztejn, Anne‐Claire, Mignot, Cyril, Doummar, Diane, Di Rocco, Frederico, Cornaton, Jenny, Nicolas, Claire, Gautier, Elodie, Luu, Maxime, Bardou, Marc, Sorlin, Arthur, Philippe, Christophe, Edery, Patrick, Rossi, Massimiliano, Carmignac, Virginie, Thauvin‐Robinet, Christel, Vabres, Pierre, Faivre, Laurence

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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations by Garde, Aurore, Cornaton, Jenny, Sorlin, Arthur, Moutton, Sébastien, Nicolas, Claire, Juif, Christine, Geneviève, David, Perrin, Laurence, Khau‐Van‐Kien, Philippe, Smol, Thomas, Vincent‐Delorme, Catherine, Isidor, Bertrand, Cogné, Benjamin, Afenjar, Alexandra, Keren, Boris, Coubes, Christine, Prieur, Fabienne, Toutain, Annick, Trousselet, Yann, Bourgouin, Solène, Gonin‐Olympiade, Coralie, Giraudat, Kim, Piton, Amélie, Gérard, Bénédicte, Odent, Sylvie, Tessier, Fanny, Lemasson, Lola, Heide, Solveig, Gelineau, Anne‐Claire, Sarret, Catherine, Miret, Anne, Schaefer, Elise, Piard, Juliette, Mathevet, Rémi, Boucon, Marion, Bruel, Ange‐Line, Mau‐Them, Frederic Tran, Chevarin, Martin, Vitobello, Antonio, Philippe, Christophe, Thauvin‐Robinet, Christel, Faivre, Laurence

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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 by Goldenberg, Alice, Riccardi, Florence, Tessier, Aude, Pfundt, Rolph, Busa, Tiffany, Cacciagli, Pierre, Capri, Yline, Coutton, Charles, Delahaye-Duriez, Andree, Frebourg, Thierry, Gatinois, Vincent, Guerrot, Anne-Marie, Genevieve, David, Lecoquierre, Francois, Jacquette, Aurélia, Khau Van Kien, Philippe, Leheup, Bruno, Marlin, Sandrine, Verloes, Alain, Michaud, Vincent, Nadeau, Gwenael, Mignot, Cyril, Parent, Philippe, Rossi, Massimiliano, Toutain, Annick, Schaefer, Elise, Thauvin-Robinet, Christel, Van Maldergem, Lionel, Thevenon, Julien, Satre, Véronique, Perrin, Laurence, Vincent-Delorme, Catherine, Sorlin, Arthur, Missirian, Chantal, Villard, Laurent, Mancini, Julien, Saugier-Veber, Pascale, Philip, Nicole

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