Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies
Hebrard, Bérénice, Babonneau, Marie-Lise, Charron, Philippe, Consolino, Emilie, Dauriat, Benjamin, Dupin-Deguine, Delphine, Fargeaud, Dominique, Farrugia, Agnès, Giguet-Valard, Anna-Gaëlle, Guijarro, Damien, Inamo, Jocelyn, Jeanneteau, Julien, Mazzella, Jean-Michaël, Michon, Claire-Cécile, Millat, Gilles, Mouquet, Frédéric, Oghina, Silvia, Pereon, Yann, Poinsignon, Vianney, Pompougnac, Julie, Proukhnitzky, Julie, Schaefer, Elise, Sturtz, Franck, Trosdorf, Mathilde, Auguste, Anne, Canali, Giorgia, Combes, Alexandre, Funalot, Benoît, Damy, Thibaud
Published in Orphanet journal of rare diseases (29.10.2024)
Published in Orphanet journal of rare diseases (29.10.2024)
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Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience
Perani, Alexandre, Bourthoumieu, Sylvie, Rizzo, David, Chauzeix, Jasmine, Dauriat, Benjamin, Turlure, Pascal, Girault, Stéphane, Veyrune, Léa, Roubinet, Maxime, Feuillard, Jean, Yardin, Catherine, Gachard, Nathalie
Published in Frontiers in oncology (27.02.2023)
Published in Frontiers in oncology (27.02.2023)
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PB1819: KMT2A::ARHGEF12 RARE FUSION ASSOCIATED WITH A NOVEL GERMLINE DDX41 VARIANT IN ACUTE MYELOID LEUKEMIA
Roubinet, Maxime, Rizzo, David, Chauzeix, Jasmine, Turlure, Pascal, Laforet, Marie‐Pierre, Derouault, Paco, Feuillard, Jean, Yardin, Catherine, Auboiroux, Marie‐Mathilde, Veyrune, Léa, Perani, Alexandre, Bourthoumieu, Sylvie, Dauriat, Benjamin, Gachard, Nathalie
Published in HemaSphere (08.08.2023)
Published in HemaSphere (08.08.2023)
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IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency
Fourneaux, Rachel, Reynaud, Rachel, Mougel, Gregory, Castets, Sarah, Bretones, Patricia, Dauriat, Benjamin, Edouard, Thomas, Raverot, Gerald, Barlier, Anne, Brue, Thierry, Castinetti, Frederic, Saveanu, Alexandru
Published in European journal of endocrinology (01.12.2022)
Published in European journal of endocrinology (01.12.2022)
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Journal Article
GM2 gangliosidosis AB variant: first case of late onset and review of the literature
Ganne, Benjamin, Dauriat, Benjamin, Richard, Laurence, Lamari, Foudil, Ghorab, Karima, Magy, Laurent, Benkirane, Mehdi, Perani, Alexandre, Marquet, Valentine, Calvas, Patrick, Yardin, Catherine, Bourthoumieu, Sylvie
Published in Neurological sciences (01.11.2022)
Published in Neurological sciences (01.11.2022)
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Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
Blondel, Amélie, Kraoua, Ichraf, Marcelino, Chloé, Khrouf, Walid, Schlemmer, Dimitri, Ganne, Benjamin, Caillaud, Catherine, Fernández-Eulate, Gorka, Turki, Ilhem Ben Youssef, Dauriat, Benjamin, Bonnefont-Rousselot, Dominique, Nadjar, Yann, Lamari, Foudil
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Testard, Quentin, Vanhoye, Xavier, Yauy, Kevin, Naud, Marie-Emmanuelle, Vieville, Gaelle, Rousseau, Francis, Dauriat, Benjamin, Marquet, Valentine, Bourthoumieu, Sylvie, Geneviève, David, Gatinois, Vincent, Wells, Constance, Willems, Marjolaine, Coubes, Christine, Pinson, Lucile, Dard, Rodolphe, Tessier, Aude, Hervé, Bérénice, Vialard, François, Harzallah, Ines, Touraine, Renaud, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Pichon, Olivier, Laudier, Béatrice, Mesnard, Laurent, Doreille, Alice, Busa, Tiffany, Missirian, Chantal, Satre, Véronique, Coutton, Charles, Celse, Tristan, Harbuz, Radu, Raymond, Laure, Taly, Jean-François, Thevenon, Julien
Published in Journal of medical genetics (01.12.2022)
Published in Journal of medical genetics (01.12.2022)
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Journal Article
Classification of PTEN germline non-truncating variants: a new approach to interpretation
Margot, Henri, Jones, Natalie, Matis, Thibaut, Bonneau, Dominique, Busa, Tiffany, Bonnet, Françoise, Conrad, Solene, Crivelli, Louise, Monin, Pauline, Fert-Ferrer, Sandra, Mortemousque, Isabelle, Raad, Sabine, Lacombe, Didier, Caux, Frédéric, Sevenet, Nicolas, Bubien, Virginie, Longy, Michel
Published in Journal of medical genetics (02.10.2024)
Published in Journal of medical genetics (02.10.2024)
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Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Cuinat, Silvestre, Quélin, Chloé, Effray, Claire, Dubourg, Christèle, Le Bouar, Gwenaelle, Cabaret-Dufour, Anne-Sophie, Loget, Philippe, Proisy, Maia, Sauvestre, Fanny, Sarreau, Mélie, Martin-Berenguer, Sophie, Beneteau, Claire, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Trimouille, Aurélien, Macé, Pierre, Sigaudy, Sabine, Glazunova, Olga, Torrents, Julia, Raymond, Laure, Saint-Frison, Marie-Hélène, Attié-Bitach, Tania, Lefebvre, Mathilde, Capri, Yline, Bourgon, Nicolas, Thauvin-Robinet, Christel, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Brehin, Anne-Claire, Goldenberg, Alice, Patrier-Sallebert, Sophie, Perani, Alexandre, Dauriat, Benjamin, Bourthoumieu, Sylvie, Yardin, Catherine, Marquet, Valentine, Barnique, Marion, Fiorenza-Gasq, Maryse, Marey, Isabelle, Tournadre, Danielle, Doumit, Raïa, Nugues, Frédérique, Barakat, Tahsin Stefan, Bustos, Francisco, Jaillard, Sylvie, Launay, Erika, Pasquier, Laurent, Odent, Sylvie
Published in Journal of medical genetics (07.06.2024)
Published in Journal of medical genetics (07.06.2024)
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Journal Article
3q29 duplications: A cohort of 46 patients and a literature review
Massier, Marie, Doco‐Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert‐Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent‐Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie, Delplancq, Geoffroy, Brisset, Sophie, Lesieur‐Sebellin, Marion, Malan, Valérie, Romana, Serge, Rio, Marlène, Marlin, Sandrine, Amiel, Jeanne, Marquet, Valentine, Dauriat, Benjamin, Moradkhani, Kamran, Mercier, Sandra, Isidor, Bertrand, Arpin, Stéphanie, Pujalte, Mathilde, Jedraszak, Guillaume, Pebrel‐Richard, Céline, Salaun, Gaëlle, Laffargue, Fanny, Boudjarane, John, Missirian, Chantal, Chelloug, Nora, Toutain, Annick, Chiesa, Jean, Keren, Boris, Mignot, Cyril, Gouy, Evan, Jaillard, Sylvie, Landais, Emilie, Poirsier, Céline
Published in American journal of medical genetics. Part A (01.07.2024)
Published in American journal of medical genetics. Part A (01.07.2024)
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Severe Phenotype in Patients with Large Deletions of NF1
Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga O, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Dieux Coeslier, Anne, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Members Of The Nf France Network, Wolkenstein, Pierre, Pasmant, Eric
Published in Cancers (13.06.2021)
Published in Cancers (13.06.2021)
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Journal Article
Plasma G M2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
Blondel, Amélie, Kraoua, Ichraf, Marcelino, Chloé, Khrouf, Walid, Schlemmer, Dimitri, Ganne, Benjamin, Caillaud, Catherine, Fernández-Eulate, Gorka, Turki, Ilhem Ben Youssef, Dauriat, Benjamin, Bonnefont-Rousselot, Dominique, Nadjar, Yann, Lamari, Foudil
Published in Molecular genetics and metabolism (01.02.2023)
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Published in Molecular genetics and metabolism (01.02.2023)
Journal Article
One NF1 Mutation may Conceal Another
Pacot, Laurence, Burin des Roziers, Cyril, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Mayard, Théodora, Tlemsani, Camille, Faivre, Laurence, Thomas, Quentin, Rodriguez, Diana, Blesson, Sophie, Dollfus, Hélène, Muller, Yvon-Gauthier, Parfait, Béatrice, Vidaud, Michel, Gilbert-Dussardier, Brigitte, Yardin, Catherine, Dauriat, Benjamin, Derancourt, Christian, Vidaud, Dominique, Pasmant, Eric
Published in Genes (22.08.2019)
Published in Genes (22.08.2019)
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Journal Article
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders
Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian
Published in medRxiv : the preprint server for health sciences (22.03.2024)
Published in medRxiv : the preprint server for health sciences (22.03.2024)
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