Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants von Gaildrat, Pascaline, Killian, Audrey, Martins, Alexandra, Tournier, Isabelle, Frébourg, Thierry, Tosi, Mario

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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants von Leman, Raphael, Tubeuf, Helene, Raad, Sabine, Tournier, Isabelle, Derambure, Celine, Lanos, Raphael, Gaildrat, Pascaline, Castelain, Gaia, Hauchard, Julie, Killian, Audrey, Baert-Desurmont, Stephanie, Legros, Angelina, Goardon, Nicolas, Quesnelle, Celine, Ricou, Agathe, Castera, Laurent, Vaur, Dominique, Le Gac, Gerald, Ka, Chandran, Fichou, Yann, Bonnet-Dorion, Francoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Boutry-Kryza, Nadia, Schultz, Ines, Caux-Moncoutier, Virginie, Rossing, Maria, Walker, Logan C., Spurdle, Amanda B., Houdayer, Claude, Martins, Alexandra, Krieger, Sophie

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Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes von CHRISTOPHE THERY, Jean, KRIEGER, Sophie, BERTHET, Pascaline, FREBOURG, Thierry, MARTINS, Alexandra, HARDOUIN, Agnes, TOSI, Mario, GAILDRAT, Pascaline, REVILLION, Françoise, BUISINE, Marie-Pierre, KILLIAN, Audrey, DUPONCHEL, Christiane, ROUSSELIN, Antoine, VAUR, Dominique, PEYRAT, Jean-Philippe

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Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability von KILLIAN, Audrey, LE MEUR, Nathalie, SESBOÜE, Richard, BOURGUIGNON, Jeannette, BOUGEARD, Gaëlle, GAUTHEROT, Julien, BASTARD, Christian, FREBOURG, Thierry, FLAMAN, Jean-Michel

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Kinetochore KMN network gene CASC5 mutated in primary microcephaly von GENIN, Anne, DESIR, Julie, LIBERT, Frederick, PIRSON, Isabelle, ABRAMOWICZ, Marc, LAMBERT, Nelle, BIERVLIET, Martine, VAN DER AA, Nathalie, PIERQUIN, Genevieve, KILLIAN, Audrey, TOSI, Mario, URBINA, Montse, LEFORT, Anne

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Contribution of theBOP1 gene, located on 8q24, to colorectal tumorigenesis von Killian, Audrey, Sarafan-Vasseur, Nasrin, Sesboüé, Richard, Le Pessot, Florence, Blanchard, France, Lamy, Aude, Laurent, Michelle, Flaman, Jean-Michel, Frébourg, Thierry

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The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements von Gaildrat, Pascaline, Krieger, Sophie, Théry, Jean-Christophe, Killian, Audrey, Rousselin, Antoine, Berthet, Pascaline, Frébourg, Thierry, Hardouin, Agnès, Martins, Alexandra, Tosi, Mario

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Contribution of the BOP1 gene, located on 8q24, to colorectal tumorigenesis von Killian, Audrey, Sarafan-Vasseur, Nasrin, Sesboüé, Richard, Le Pessot, Florence, Blanchard, France, Lamy, Aude, Laurent, Michelle, Flaman, Jean-Michel, Frébourg, Thierry

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Contribution of bioinformatics predictions and of functional splicing assays to the interpretation of unclassified variants of the BRCA genes: variants of unknown significance of t... von Théry, Jean Christophe, Krieger, Sophie, Gaildrat, Pascaline, Révillon, Françoise, Buisine, Marie-Pierre, Killian, Audrey, Duponchel, Christiane, Rousselin, Antoine, Vaur, Dominique, Peyrat, Jean François, Berthet, Pascaline, Frébourg, Thierry, Martins, Alexandra, Hardouin, Agnès, Tosi, Mario

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A Simple Method for the Routine Detection of Somatic Quantitative Genetic Alterations in Colorectal Cancer von Killian, Audrey, Di Fiore, Frédéric, Le Pessot, Florence, Blanchard, France, Lamy, Aude, Raux, Grégory, Flaman, Jean–Michel, Paillot, Bernard, Michel, Pierre, Sabourin, Jean–Christophe, Tuech, Jean–Jacques, Michot, Francis, Kerckaert, Jean–Pierre, Sesboüé, Richard, Frebourg, Thierry

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Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome von BOUGEARD, Gaelle, LIMACHER, Jean-Marc, FLAMAN, Jean-Michel, FREBOURG, Thierry, MARTIN, Cosette, CHARBONNIER, Francoise, KILLIAN, Audrey, DELATTRE, Olivier, LONGY, Michel, JONVEAUX, Philippe, FRICKER, Jean-Pierre, STOPPA-LYONNET, Dominique

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Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome von BOUGEARD, GAËLLE, LIMACHER, JEAN-MARC, MARTIN, COSETTE, CHARBONNIER, FRANÇOISE, KILLIAN, AUDREY, DELATTRE, OLIVIER, LONGY, MICHEL, JONVEAUX, PHILIPPE, FRICKER, JEAN-PIERRE, STOPPA-LYONNET, DOMINIQUE, FLAMAN, JEAN-MICHEL, FRÉBOURG, THIERRY

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Additional file 2 of Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants von Leman, Raphaël, Tubeuf, Hélène, Raad, Sabine, Tournier, Isabelle, Derambure, Céline, Lanos, Raphaël, Gaildrat, Pascaline, Castelain, Gaia, Hauchard, Julie, Killian, Audrey, Baert-Desurmont, Stéphanie, Legros, Angelina, Goardon, Nicolas, Quesnelle, Céline, Ricou, Agathe, Castera, Laurent, Vaur, Dominique, Gac, Gérald, Ka, Chandran, Fichou, Yann, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Boutry-Kryza, Nadia, Schultz, Inès, Caux-Moncoutier, Virginie, Rossing, Maria, Walker, Logan, Spurdle, Amanda, Houdayer, Claude, Martins, Alexandra, Krieger, Sophie

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Additional file 3 of Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants von Leman, Raphaël, Tubeuf, Hélène, Raad, Sabine, Tournier, Isabelle, Derambure, Céline, Lanos, Raphaël, Gaildrat, Pascaline, Castelain, Gaia, Hauchard, Julie, Killian, Audrey, Baert-Desurmont, Stéphanie, Legros, Angelina, Goardon, Nicolas, Quesnelle, Céline, Ricou, Agathe, Castera, Laurent, Vaur, Dominique, Gac, Gérald, Ka, Chandran, Fichou, Yann, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Boutry-Kryza, Nadia, Schultz, Inès, Caux-Moncoutier, Virginie, Rossing, Maria, Walker, Logan, Spurdle, Amanda, Houdayer, Claude, Martins, Alexandra, Krieger, Sophie

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Proton‐Detected Solid‐State NMR Spectroscopy of a Zinc Diffusion Facilitator Protein in Native Nanodiscs von Bersch, Beate, Dörr, Jonas M., Hessel, Audrey, Killian, J. Antoinette, Schanda, Paul

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Clinical spectrum and therapeutic management of auto-immune myelofibrosis: a nation-wide study of 30 cases von Mertz, Philippe, Chalayer, Emilie, Amoura, Zahir, Cathebras, Pascal, Chiche, Laurent, Costedoat, Nathalie, Deroux, Alban, Diot, Elisabeth, Durupt, Stephane, Forestier, Emmanuel, Gorse, Audrey, Hudier, Laurent, Killian, Martin, Lambotte, Olivier, Lecomte, Claire, Ledoult, Emmanuel, Martinez, Camille, Mathian, Alexis, Morin, Anne-Sophie, Noel, Nicolas, De Chambrun, Marc Pineton, Terriou, Louis, Sibilia, Jean, Gottenberg, Jacques-Eric, Korganow, Anne-Sophie, Arnaud, Laurent, Martin, Thierry

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The Regulatory RNA ern0160 Confers a Potential Selective Advantage to Enterococcus faecium for Intestinal Colonization von Reissier, Sophie, Le Neindre, Killian, Bordeau, Valerie, Dejoies, Loren, Le Bot, Audrey, Felden, Brice, Cattoir, Vincent, Revest, Matthieu

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Orbital mass in ANCA-associated vasculitides: data on clinical, biological, radiological and histological presentation, therapeutic management, and outcome from 59 patients von Durel, Cécile-Audrey, Hot, Arnaud, Trefond, Ludovic, Aumaitre, Olivier, Pugnet, Gregory, Samson, Maxime, Abad, Sébastien, Belot, Alexandre, Blanchard-Delaunay, Claire, Cohen, Pascal, Cohen-Aubard, Fleur, Cottin, Vincent, Crestani, Bruno, Moreuil, Claire De, Durupt, Stéphane, Garzaro, Margaux, Girszyn, Nicolas, Godeau, Bertrand, Hachulla, Eric, Jamilloux, Yvan, Jego, Patrick, Killian, Martin, Lazaro, Estibaliz, Le Gallou, Thomas, Liozon, Eric, Martin, Thierry, Papo, Thomas, Perlat, Antoinette, Pillet, Pascal, Guillevin, Loïc, Terrier, Benjamin

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Equitable hiring strategies towards a diversified faculty von Cosgriff-Hernandez, Elizabeth M., Aguado, Brian A., Akpa, Belinda, Fleming, Gabriella Coloyan, Moore, Erika, Porras, Ana Maria, Boyle, Patrick M., Chan, Deva D., Chesler, Naomi, Christman, Karen L., Desai, Tejal A., Harley, Brendan A. C., Hudalla, Gregory A., Killian, Megan L., Maisel, Katharina, Maitland, Kristen C., Peyton, Shelly R., Pruitt, Beth L., Stabenfeldt, Sarah E., Stevens, Kelly R., Bowden, Audrey K.

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Proton-Detected Solid-State NMR Spectroscopy of a Zinc Diffusion Facilitator Protein in Native Nanodiscs von Bersch, Beate, Dörr, Jonas M, Hessel, Audrey, Killian, J Antoinette, Schanda, Paul

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