VarAFT: a variant annotation and filtration system for human next generation sequencing data

por Desvignes, Jean-Pierre, Bartoli, Marc, Delague, Valérie, Krahn, Martin, Miltgen, Morgane, Béroud, Christophe, Salgado, David
Publicado 2018

Uncoupling of Molecular Maturation from Peripheral Target Innervation in Nociceptors Expressing a Chimeric TrkA/TrkC Receptor

por Gorokhova, Svetlana, Gaillard, Stéphane, Urien, Louise, Malapert, Pascale, Legha, Wassim, Baronian, Grégory, Desvignes, Jean-Pierre, Alonso, Serge, Moqrich, Aziz
Publicado 2014

A Genetic Screen for Functional Partners of Condensin in Fission Yeast

por Robellet, Xavier, Fauque, Lydia, Legros, Pénélope, Mollereau, Esther, Janczarski, Stéphane, Parrinello, Hugues, Desvignes, Jean-Pierre, Thevenin, Morgane, Bernard, Pascal
Publicado 2013

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

por Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc
Publicado 2015

Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera)

por McDonnell, Cynthia M, Alaux, Cédric, Parrinello, Hugues, Desvignes, Jean-Pierre, Crauser, Didier, Durbesson, Emma, Beslay, Dominique, Le Conte, Yves
Publicado 2013

UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

por Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe
Publicado 2016

Protein domains provide a new layer of information for classifying human variations in rare diseases

por Corcuff, Mélanie, Garibal, Marc, Desvignes, Jean-Pierre, Guien, Céline, Grattepanche, Coralie, Collod-Béroud, Gwenaëlle, Ménoret, Estelle, Salgado, David, Béroud, Christophe
Publicado 2023

In-Cell Intrabody Selection from a Diverse Human Library Identifies C12orf4 Protein as a New Player in Rodent Mast Cell Degranulation

por Mazuc, Elsa, Guglielmi, Laurence, Bec, Nicole, Parez, Vincent, Hahn, Chang S., Mollevi, Caroline, Parrinello, Hugues, Desvignes, Jean-Pierre, Larroque, Christian, Jupp, Ray, Dariavach, Piona, Martineau, Pierre
Publicado 2014

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo

por Barckmann, Bridlin, Pierson, Stéphanie, Dufourt, Jérémy, Papin, Catherine, Armenise, Claudia, Port, Fillip, Grentzinger, Thomas, Chambeyron, Séverine, Baronian, Grégory, Desvignes, Jean-Pierre, Curk, Tomaz, Simonelig, Martine
Publicado 2015

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

por Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Publicado 2014

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

por Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara
Publicado 2018

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

por Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie
Publicado 2018

Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation

por Stefanovic, Sonia, Laforest, Brigitte, Desvignes, Jean-Pierre, Lescroart, Fabienne, Argiro, Laurent, Maurel-Zaffran, Corinne, Salgado, David, Plaindoux, Elise, De Bono, Christopher, Pazur, Kristijan, Théveniau-Ruissy, Magali, Béroud, Christophe, Puceat, Michel, Gavalas, Anthony, Kelly, Robert G, Zaffran, Stephane
Publicado 2020

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

por Jallades, Laurent, Baseggio, Lucile, Sujobert, Pierre, Huet, Sarah, Chabane, Kaddour, Callet-Bauchu, Evelyne, Verney, Aurélie, Hayette, Sandrine, Desvignes, Jean-Pierre, Salgado, David, Levy, Nicolas, Béroud, Christophe, Felman, Pascale, Berger, Françoise, Magaud, Jean-Pierre, Genestier, Laurent, Salles, Gilles, Traverse-Glehen, Alexandra
Publicado 2017

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

por Gargaun, Elena, Falcone, Sestina, Solé, Guilhem, Durigneux, Julien, Urtizberea, Andoni, Cuisset, Jean Marie, Benkhelifa-Ziyyat, Sofia, Julien, Laura, Boland, Anne, Sandron, Florian, Meyer, Vincent, Deleuze, Jean François, Salgado, David, Desvignes, Jean-Pierre, Béroud, Christophe, Chessel, Anatole, Blesius, Alexia, Krahn, Martin, Levy, Nicolas, Leturcq, France, Pietri-Rouxel, France
Publicado 2021

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

por Jalkh, Nadine, Corbani, Sandra, Haidar, Zahraa, Hamdan, Nadine, Farah, Elias, Abou Ghoch, Joelle, Ghosn, Rouba, Salem, Nabiha, Fawaz, Ali, Djambas Khayat, Claudia, Rajab, Mariam, Mourani, Chebl, Moukarzel, Adib, Rassi, Simon, Gerbaka, Bernard, Mansour, Hicham, Baassiri, Malek, Dagher, Rawane, Breich, David, Mégarbané, André, Desvignes, Jean Pierre, Delague, Valérie, Mehawej, Cybel, Chouery, Eliane
Publicado 2019

Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis

por Neri, Tui, Hiriart, Emilye, van Vliet, Patrick P., Faure, Emilie, Norris, Russell A., Farhat, Batoul, Jagla, Bernd, Lefrancois, Julie, Sugi, Yukiko, Moore-Morris, Thomas, Zaffran, Stéphane, Faustino, Randolph S., Zambon, Alexander C., Desvignes, Jean-Pierre, Salgado, David, Levine, Robert A., de la Pompa, Jose Luis, Terzic, André, Evans, Sylvia M., Markwald, Roger, Pucéat, Michel
Publicado 2019

New advances in DPYD genotype and risk of severe toxicity under capecitabine

por Etienne-Grimaldi, Marie-Christine, Boyer, Jean-Christophe, Beroud, Christophe, Mbatchi, Litaty, van Kuilenburg, André, Bobin-Dubigeon, Christine, Thomas, Fabienne, Chatelut, Etienne, Merlin, Jean-Louis, Pinguet, Frédéric, Ferrand, Christophe, Meijer, Judith, Evrard, Alexandre, Llorca, Laurence, Romieu, Gilles, Follana, Philippe, Bachelot, Thomas, Chaigneau, Loic, Pivot, Xavier, Dieras, Véronique, Largillier, Rémy, Mousseau, Mireille, Goncalves, Anthony, Roché, Henri, Bonneterre, Jacques, Servent, Véronique, Dohollou, Nadine, Château, Yann, Chamorey, Emmanuel, Desvignes, Jean-Pierre, Salgado, David, Ferrero, Jean-Marc, Milano, Gérard
Publicado 2017