Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing by 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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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis by 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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Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? by 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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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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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway by 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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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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Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases by 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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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio... by 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 by 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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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature by 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, Valérie, Amram, Daniel, Boute-Bénéjean, 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, Olivié, Hilde, Smith, Wendy E, Dumas, Meghan, Lehman, Anna, 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, Õunap, Katrin, Filiano, James J, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William B, Hevner, Robert, Thauvin-Robinet, Christel

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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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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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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‐... by 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 by 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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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses by 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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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants by 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... by 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... by 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 by 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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Estimated SARS-CoV-2 Seroprevalence Among Persons Aged <18 Years - Mississippi, May-September 2020 by Hobbs, Charlotte V, Drobeniuc, Jan, Kittle, Theresa, Williams, John, Byers, Paul, Satheshkumar, Panayampalli S, Inagaki, Kengo, Stephenson, Meagan, Kim, Sara S, Patel, Manish M, Flannery, Brendan

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