Search Results - "Poe, Charlotte"

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

“…Purpose Congenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular…”
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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

“…Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield…”
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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

“…In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics recommends limiting variant interpretation to established…”
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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

“…Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple…”
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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

“…With exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs)…”
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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

“…Since the first description of a BRWD3-associated nonsydromic intellectual disability (ID) disorder in 2007, 21 additional families have been reported in the…”
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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

“…Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare autosomal recessive disorder associating developmental sex disorder (DSD) in…”
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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 developmental disorders 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

“…Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are…”
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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‐CGH 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

“…It has been estimated that Copy Number Variants (CNVs) account for 10%–20% of patients affected by Developmental Disorder (DD)/Intellectual Disability (ID)…”
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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

“…Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness…”
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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

“…Obtaining a rapid etiological diagnosis for infants with early-onset rare diseases remains a major challenge. These diseases often have a severe presentation…”
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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

“…TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD)…”
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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% additional candidate variants 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

“…Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput…”
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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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