Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests von 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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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis von Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing von Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

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Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? von Bourgon, Nicolas, Garde, Aurore, Bruel, Ange-Line, Lefebvre, Mathilde, Mau-Them, Frederic Tran, Moutton, Sebastien, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Chevarin, Martin, Pöe, Charlotte, Thevenon, Julien, Lehalle, Daphné, Jean-Marçais, Nolween, Kuentz, Paul, Lambert, Laetitia, El Chehadeh, Salima, Schaefer, Elise, Willems, Marjolaine, Laffargue, Fanny, Francannet, Christine, Fradin, Mélanie, Gaillard, Dominique, Blesson, Sophie, Goldenberg, Alice, Capri, Yline, Sagot, Paul, Rousseau, Thierry, Simon, Emmanuel, Binquet, Christine, Ascencio, Marie-Laure, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin-Robinet, Christel

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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway von Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature von Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valerie, Amram, Daniel, Boute-Benejean, Odile, Bhoj, Elizabeth, Cousin, Margot A., Kruisselbrink, Teresa M., Lanpher, Brendan C., Klee, Eric W., Fiala, Elise, Grange, Dorothy K., Meschino, Wendy S., Hiatt, Susan M., Cooper, Gregory M., Olivie, Hilde, Smith, Wendy E., Dumas, Meghan, Lehman, Anna, Adam, Shelin, du Souich, Christele, Elliott, Alison M., Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan S., Miramar, Dolores, Van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna C., Pajusalu, Sander, Ounap, Katrin, Filiano, James J., Smol, Thomas, Piton, Amelie, Gerard, Benedicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Riviere, Jean-Baptiste, Tran Mau-Them, Frederic, Philippe, Christophe, Duffourd, Yannis, Dobyns, William B., Hevner, Robert, Thauvin-Robinet, Christel

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Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases von Tran Mau‐Them, Frederic, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Sorlin, Arthur, Couturier, Victor, Bourgeois, Valentin, Chevarin, Martin, Poe, Charlotte, Mosca‐Boidron, Anne‐Laure, Callier, Patrick, Safraou, Hana, Faivre, Laurence, Philippe, Christophe, Thauvin‐Robinet, Christel

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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network von 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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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants von Mazel, Benoit, Mallet, Delphine, Roucher‐Boulez, Florence, Signor, Candace Ben, Bournez, Marie, Darmency, Véronique, Bourgeois, Valentin, Poe, Charlotte, El Khabbaz, Fares, Vitobello, Antonio, Philippe, Christophe, Duffourd, Yannis, Thauvin‐Robinet, Christel, Faivre, Laurence, Nambot, Sophie

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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 von 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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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... von 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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Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐... von Tisserant, Emilie, Vitobello, Antonio, Callegarin, Davide, Verdez, Simon, Bruel, Ange‐line, Aho Glele, Ludwig Serge, Sorlin, Arthur, Viora‐Dupont, Eleonore, Konyukh, Marina, Marle, Nathalie, Nambot, Sophie, Moutton, Sébastien, Racine, Caroline, Garde, Aurore, Delanne, Julian, Tran‐Mau‐Them, Frédéric, Philippe, Christophe, Kuentz, Paul, Poulleau, Marlène, Payet, Muriel, Poe, Charlotte, Thauvin‐Robinet, Christel, Faivre, Laurence, Mosca‐Boidron, Anne‐Laure, Thevenon, Julien, Duffourd, Yannis, Callier, Patrick

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Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis von Lefebvre, Mathilde, Beaufrere, Anne‐Marie, Francannet, Christine, Laurichesse, Helene, Poe, Charlotte, Jouan, Thibaud, Troude, Baptiste, Dechelotte, Pierre, Vabres, Pierre, Biard, Marie, Mosca‐Boidron, Anne‐Laure, Duffourd, Yannis, Faivre, Laurence, Thevenon, Julien, Thauvin‐Robinet, Christel

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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature von Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valerie, Amram, Daniel, Boute-Benejean, Odile, Bhoj, Elizabeth, Cousin, Margot A, Kruisselbrink, Teresa M, Lanpher, Brendan C, Klee, Eric W, Fiala, Elise, Grange, Dorothy K, Meschino, Wendy S, Hiatt, Susan M, Cooper, Gregory M, Olivie, Hilde, Smith, Wendy E, Dumas, Meghan, Lehman, Anna, Adam, Shelin, du Souich, Christele, Elliott, Alison M, Mwenifumbo, Jill, Nelson, Tanya N, van Karnebeek, Clara, Friedman, Jan M, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan S, Miramar, Dolores, Van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna C, Pajusalu, Sander, Ounap, Katrin, Filiano, James J, Smol, Thomas, Piton, Amelie, Gerard, Benedicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Riviere, Jean-Baptiste, Tran Mau-Them, Frederic, Philippe, Christophe, Duffourd, Yannis, Dobyns, William B, Hevner, Robert, Thauvin-Robinet, Christel

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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses von Bourchany, Aurélie, Thauvin-Robinet, Christel, Lehalle, Daphné, Bruel, Ange-Line, Masurel-Paulet, Alice, Jean, Nolwenn, Nambot, Sophie, Willems, Marjorie, Lambert, Laetitia, El Chehadeh-Djebbar, Salima, Schaefer, Elise, Jaquette, Aurélia, St-Onge, Judith, Poe, Charlotte, Jouan, Thibaud, Chevarin, Martin, Callier, Patrick, Mosca-Boidron, Anne-Laure, Laurent, Nicole, Lefebvre, Mathilde, Huet, Frédéric, Houcinat, Nada, Moutton, Sébastien, Philippe, Christophe, Tran-Mau-Them, Frédéric, Vitobello, Antonio, Kuentz, Paul, Duffourd, Yannis, Rivière, Jean-Baptiste, Thevenon, Julien, Faivre, Laurence

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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio... von Colin, Estelle, Duffourd, Yannis, Tisserant, Emilie, Relator, Raissa, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Delanne, Julian, Jean-Marçais, Nolwenn, Keren, Boris, Isidor, Bertrand, Vincent, Marie, Mignot, Cyril, Heron, Delphine, Afenjar, Alexandra, Heide, Solveig, Faudet, Anne, Charles, Perrine, Odent, Sylvie, Herenger, Yvan, Sorlin, Arthur, Moutton, Sébastien, Kerkhof, Jennifer, McConkey, Haley, Chevarin, Martin, Poë, Charlotte, Couturier, Victor, Bourgeois, Valentin, Callier, Patrick, Boland, Anne, Olaso, Robert, Philippe, Christophe, Sadikovic, Bekim, Thauvin-Robinet, Christel, Faivre, Laurence, Deleuze, Jean-François, Vitobello, Antonio

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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants von Mazel, Benoit, Mallet, Delphine, Roucher-Boulez, Florence, Signor, Candace Ben, Bournez, Marie, Darmency, Véronique, Bourgeois, Valentin, Poe, Charlotte, El Khabbaz, Fares, Vitobello, Antonio, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie

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Consensus recommendations for the use of novel antiretrovirals in persons with HIV who are heavily treatment‐experienced and/or have multidrug‐resistant HIV‐1: Endorsed by the Amer... von Cluck, David B., Chastain, Daniel B., Murray, Milena, Durham, Spencer H., Chahine, Elias B., Derrick, Caroline, Dumond, Julie B., Hester, E. Kelly, Jeter, Sarah B., Johnson, Melissa D., Kilcrease, Christin, Kufel, Wesley D., Kwong, Jeffrey, Ladak, Amber F., Patel, Nimish, Pérez, Sarah E., Poe, Jonell B., Bolch, Charlotte, Thomas, Ian, Asiago‐Reddy, Elizabeth, Short, William R.

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Consensus recommendations for the use of novel antiretrovirals in persons with HIV who are heavily treatment‐experienced and/or have multidrug‐resistant HIV‐1: Endorsed by the Amer... von Cluck, David B., Chastain, Daniel B., Murray, Milena, Durham, Spencer H., Chahine, Elias B., Derrick, Caroline, Dumond, Julie B., Hester, E. Kelly, Jeter, Sarah B., Johnson, Melissa D., Kilcrease, Christin, Kufel, Wesley D., Kwong, Jeffrey, Ladak, Amber F., Patel, Nimish, Pérez, Sarah E., Poe, Jonell B., Bolch, Charlotte, Thomas, Ian, Asiago‐Reddy, Elizabeth, Short, William R.

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Prevalence of skin pressure injury in critical care patients in the UK: results of a single-day point prevalence evaluation in adult critically ill patients von Rubulotta, Francesca, Brett, Stephen, Boulanger, Carole, Labeau, Sonia O, Infirmary, Aberdeen Royal, Morren, Faye, Young, Charlotte, Burns, Karen, Georgiev, Carmel, Shayamano, Rosina, Kerslake, Ian, Creber, Peter, Vochin, Ana, Hagan, Samantha, Torlinski, Tomasz, Kannan, Santhana, Markham, Amber, Cupitt, Jason, Milner, Wendy, Groba, Casiano Barrera, Azoia, Joao, Polgarova, Petra, George, Shaly, Kapoor, Ritoo, Lynch, Ceri, Cranmer, Karen, Llewellym, Thomas, Boulton, Karen, Jarman, Rachel, Raj, Ashok Sundai, Moghal, Arif, White, Joanne, Barrowcliffe, Suzanne, Pulletz, Mark, Ganeshalingam, Vaarisan, Baruah, Rosaleen, Boulanger, Carole, Baker, Helen, Woods, Justin, Poe Ei, Poe, Hayden, Paul, Balasubramanian, Madhu, Salberg, Armorel, Holmquist, Dagmar, Derbyshire, Claire, Stones, Elizabeth, Legorburo, Maria Schofield, North, Samantha, Jaundoo, Helen, Wilby, Liz, Delve, Peter, Shaw, David, Williams, Karen, Welters, Ingeborg D, Brett, Stephen, Adams, John, Prowle, John, Byers, Heather, McDonnell, Andrea, Mendes, Luis, Vizcaychipi, Marcela, Bull, Rhian, Delgado, Carlos Castro, Farnell-Ward, Sarah, Thorpe, Elaine, Somerville, Justine, Cummings, Donna, Derrick, Helen, Randell, Claire, McCann, Nicola, Aves, Emma, Berry, Gillian, Sarkar, Nikki, Gomes, Vitor, Jones, Jo, Camsooksai, Julie, Tridente, Ascanio, Barr, Louise, Jovaisa, Tomas, Thomas, Beverley, Horner, Daniel, Baumber, Rachel, Broadhurst, Phil, Jackson, Matthew, Williams, Lynne, Clark, Michele, Paddle, Jonathan, Buckley, Sarah, Allison, Nicola, Parsons, Penny, Turner, Sarah Jane, Bielskute, Egidija, Habgood, Karen, Zaki, Ahmed, Collins, Amy, Lord, Jenny, Ramiro, Charalice, Kubisz-Pudelko, Agnieszka, Williams, Helen, Attwood, Ben

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