Efficacy thresholds and target populations for antiviral COVID-19 treatments to save lives and costs: a modelling studyResearch in context von Epke A. Le Rutte, Andrew J. Shattock, Inês Marcelino, Sophie Goldenberg, Melissa A. Penny

Volltext

Efficacy thresholds and target populations for antiviral COVID-19 treatments to save lives and costs: a modelling study von Le Rutte, Epke A., Shattock, Andrew J., Marcelino, Inês, Goldenberg, Sophie, Penny, Melissa A.

Volltext

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy von Luppe, Johannes, Sticht, Heinrich, Lecoquierre, François, Goldenberg, Alice, Gorman, Kathleen M, Molloy, Ben, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana, Kuismin, Outi, Marcelis, Carlo, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Julia, Sophie, Lemke, Johannes R, Abou Jamra, Rami, Platzer, Konrad

Volltext

Evaluation, analysis, and reporting of medication adherence for clinical trials of anticoagulants in children: guidance from the ISTH SSC Subcommittee on Pediatric and Neonatal Thr... von McGrady, Meghan E., Ignjatovic, Vera, Jones, Sophie, Bruce, Aisha, Goldenberg, Neil A., Rizzi, Mattia, Thornburg, Courtney D., Todd, Kevin E., Luchtman-Jones, Lori

Volltext

Recommendations for standardized definitions, clinical assessment, and future research in pediatric clinically unsuspected venous thromboembolism: Communication from the ISTH SSC s... von Betensky, Marisol, Kulkarni, Ketan, Rizzi, Mattia, Jones, Sophie, Brandão, Leonardo R., Faustino, Edward Vincent S., Goldenberg, Neil A., Sharathkumar, Anjali

Volltext

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders von Thauvin‐Robinet, Christel, Garde, Aurore, Delanne, Julian, Racine, Caroline, Rousseau, Thierry, Simon, Emmanuel, François, Michel, Moutton, Sebastien, Sylvie, Odent, Quelin, Chloe, Morel, Godelieve, Goldenberg, Alice, Guerrot, Anne‐Marie, Vera, Gabriella, Gruchy, Nicolas, Colson, Cindy, Boute, Odile, Abel, Carine, Putoux, Audrey, Amiel, Jeanne, Guichet, Agnes, Isidor, Bertrand, Deiller, Caroline, Wells, Constance, Rooryck, Caroline, Legendre, Marine, Francannet, Christine, Dard, Rodolphe, Sigaudy, Sabine, Bruel, Ange‐Line, Safraou, Hana, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Asensio, Marie‐Laure Humbert, Binquet, Christine, Duffourd, Yannis, Vitobello, Antonio, Philippe, Christophe, Faivre, Laurence, Tran‐Mau‐Them, Frédéric, Bourgon, Nicolas

Volltext

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome von Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G., Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne‐Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L., Mefford, Heather C., Myers, Candace T., Howell, Katherine B., Rodríguez‐Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F., de Wit, Marie Claire Y., Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima

Volltext

Natural history of Barth syndrome: a national cohort study of 22 patients von Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean

Volltext

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations von Jourdain, Anne‐Sophie, Petit, Florence, Odou, Marie‐Françoise, Balduyck, Malika, Brunelle, Perrine, Dufour, William, Boussion, Simon, Brischoux‐Boucher, Elise, Colson, Cindy, Dieux, Anne, Gérard, Marion, Ghoumid, Jamal, Giuliano, Fabienne, Goldenberg, Alice, Khau Van Kien, Philippe, Lehalle, Daphné, Morin, Gilles, Moutton, Sébastien, Smol, Thomas, Vanlerberghe, Clémence, Manouvrier‐Hanu, Sylvie, Escande, Fabienne

Volltext

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A von Boussion, Simon, Escande, Fabienne, Jourdain, Anne‐Sophie, Smol, Thomas, Brunelle, Perrine, Duhamel, Céline, Alembik, Yves, Attié‐Bitach, Tania, Baujat, Geneviève, Bazin, Anne, Bonnière, Maryse, Carassou, Philippe, Carles, Dominique, Devisme, Louise, Goizet, Cyril, Goldenberg, Alice, Grotto, Sarah, Guichet, Agnès, Jouk, Pierre‐Simon, Loeuillet, Laurence, Mechler, Charlotte, Michot, Caroline, Pelluard, Fanny, Putoux, Audrey, Whalen, Sandra, Ghoumid, Jamal, Manouvrier‐Hanu, Sylvie, Petit, Florence

Volltext

CI-452767-2 LEFT-TO-RIGHT ATRIOVENTRICULAR ACTIVATION DELAY, A NOVEL MEASURE OF AV-CONDUCTION, PREDICTS BENEFIT VERSUS HARM OF CRT IN NON-LBBB PATIENTS von Beierle, Anika Sophie, Stockburger, Martin A., Zareba, Wojciech, Auge, Richard E., Goldenberg, Ilan, Rosero, Spencer Z., McNitt, Scott, Kutyifa, Valentina

Volltext

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases von Tessier, Aude, Sarreau, Mélie, Pelluard, Fanny, André, Gwenaelle, Blesson, Sophie, Bucourt, Martine, Dechelotte, Pierre, Faivre, Laurence, Frébourg, Thierry, Goldenberg, Alice, Goua, Valérie, Jeanne-Pasquier, Corinne, Guimiot, Fabien, Laquerriere, Annie, Laurent, Nicole, Lefebvre, Mathilde, Loget, Philippe, Maréchaud, Martine, Mechler, Charlotte, Perez, Marie-Josée, Sabourin, Jean Christophe, Verloes, Alain, Patrier, Sophie, Guerrot, Anne-Marie

Volltext

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals von Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K. H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, Geneviève, David

Volltext

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients von Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, Collet, Corinne

Volltext

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis von Tran Mau-Them, Frédéric, Overs, Alexis, Bruel, Ange-Line, Duquet, Romain, Thareau, Mylene, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Sorlin, Arthur, Safraou, Hana, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Racine, Caroline, Engel, Camille, De Giraud d'Agay, Melchior, Lehalle, Daphne, Goldenberg, Alice, Willems, Marjolaine, Coubes, Christine, Genevieve, David, Verloes, Alain, Capri, Yline, Perrin, Laurence, Jacquemont, Marie-Line, Lambert, Laetitia, Lacaze, Elodie, Thevenon, Julien, Hana, Nadine, Van-Gils, Julien, Dubucs, Charlotte, Bizaoui, Varoona, Gerard-Blanluet, Marion, Lespinasse, James, Mercier, Sandra, Guerrot, Anne-Marie, Maystadt, Isabelle, Tisserant, Emilie, Faivre, Laurence, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel

Volltext

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome von Bassett, Anne S., MD, McDonald-McGinn, Donna M., MS, CGC, Devriendt, Koen, MD, Digilio, Maria Cristina, MD, Goldenberg, Paula, MD, MSW, Habel, Alex, MD, Marino, Bruno, MD, Oskarsdottir, Solveig, MD, PhD, Philip, Nicole, MD, Sullivan, Kathleen, MD, PhD, Swillen, Ann, PhD, Vorstman, Jacob, MD, PhD

Volltext

Parental Burnout Around the Globe: a 42-Country Study von Roskam, Isabelle, Aguiar, Joyce, Akgun, Ege, Arikan, Gizem, Artavia, Mariana, Avalosse, Hervé, Aunola, Kaisa, Bader, Michel, Bahati, Claire, Barham, Elizabeth J., Besson, Eliane, Beyers, Wim, Boujut, Emilie, Brianda, Maria Elena, Brytek-Matera, Anna, Carbonneau, Noémie, César, Filipa, Chen, Bin-Bin, Dorard, Géraldine, dos Santos Elias, Luciana Carla, Dunsmuir, Sandra, Egorova, Natalia, Favez, Nicolas, Fontaine, Anne-Marie, Foran, Heather, Fricke, Julia, Furutani, Kaichiro, Gallée, Laura, Gannagé, Myrna, Gaspar, Maria, Godbout, Lucie, Goldenberg, Amit, Gross, James J., Gurza, Maria Ancuta, Hall, Ruby, Hashmi, Muhammad Aamir, Hatta, Ogma, Helmy, Mai, Hoang, Thi Vân, Huynh, Mai Trang, Kaneza, Emerence, Kawamoto, Taishi, Knezevic, Goran, Kpassagou, Bassantéa Lodegaèna, Lazarevic, Ljiljana B., Le Vigouroux, Sarah, Lebert-Charron, Astrid, Leme, Vanessa, Lin, Gao-Xian, MacCann, Carolyn, Manrique-Millones, Denisse, Matias, Marisa, Miranda-Orrego, María Isabel, Miscioscia, Marina, Morgades-Bamba, Clara, Mousavi, Seyyedeh Fatemeh, Moutassem-Mimouni, Badra, Muntean, Ana, Murphy, Hugh, Ndayizigiye, Alexis, Tenkue, Josué Ngnombouowo, Olderbak, Sally, Ornawka, Sophie, Osman, Fatumo, Oyarce-Cadiz, Daniela, Pérez-Díaz, Pablo A., Petrides, Konstantinos V., Pineda-Marin, Claudia, Prandstetter, Katharina, Prikhidko, Alena, Ricci, Ricardo T., Salinas-Quiroz, Fernando, Sánchez-Rodríguez, Raquel, Sarrionandia, Ainize, Scola, Céline, Sezibera, Vincent, Silva, Paola, Simonelli, Alessandra, Soenens, Bart, Sorbring, Emma, Sorkkila, Matilda, Schrooyen, Charlotte, Stănculescu, Elena, Starchenkova, Elena, Szczygiel, Dorota, Tapia, Javier, Tri, Thi Minh Thuy, Tremblay, Mélissa, Ustundag-Budak, A. Meltem, Pacheco, Maday Valdés, van Bakel, Hedwig, Verhofstadt, Lesley, Wendland, Jaqueline, Yotanyamaneewong, Saengduean, Mikolajczak, Moïra

Volltext

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients von Coursimault, Juliette, Cassinari, Kévin, Lecoquierre, François, Quenez, Olivier, Coutant, Sophie, Derambure, Céline, Vezain, Myriam, Drouot, Nathalie, Vera, Gabriella, Schaefer, Elise, Philippe, Anaïs, Doray, Bérénice, Lambert, Laëtitia, Ghoumid, Jamal, Smol, Thomas, Rama, Mélanie, Legendre, Marine, Lacombe, Didier, Fergelot, Patricia, Olaso, Robert, Boland, Anne, Deleuze, Jean‐François, Goldenberg, Alice, Saugier‐Veber, Pascale, Nicolas, Gaël

Volltext

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing von Leman, Raphaël, Parfait, Béatrice, Vidaud, Dominique, Girodon, Emmanuelle, Pacot, Laurence, Le Gac, Gérald, Ka, Chandran, Ferec, Claude, Fichou, Yann, Quesnelle, Céline, Aucouturier, Camille, Muller, Etienne, Vaur, Dominique, Castera, Laurent, Boulouard, Flavie, Ricou, Agathe, Tubeuf, Hélène, Soukarieh, Omar, Gaildrat, Pascaline, Riant, Florence, Guillaud‐Bataille, Marine, Caputo, Sandrine M., Caux‐Moncoutier, Virginie, Boutry‐Kryza, Nadia, Bonnet‐Dorion, Françoise, Schultz, Ines, Rossing, Maria, Quenez, Olivier, Goldenberg, Louis, Harter, Valentin, Parsons, Michael T., Spurdle, Amanda B., Frébourg, Thierry, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie

Volltext