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 no Nucleic Acids Res (2018)

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 em 2013

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 em 2014

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 no Appl Transl Genom (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 em 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 no Hum Mutat (2016)

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Por Cacciagli, Pierre, Desvignes, Jean-Pierre, Girard, Nadine, Delepine, Marc, Zelenika, Diana, Lathrop, Mark, Lévy, Nicolas, Ledbetter, David H, Dobyns, William B, Villard, Laurent
Publicado em 2014

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 em 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 no Cell Rep (2015)

Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling

Por Bonnans, Caroline, Flacelière, Maud, Grillet, Fanny, Dantec, Christelle, Desvignes, Jean-Pierre, Pannequin, Julie, Severac, Dany, Dubois, Emeric, Bibeau, Frédéric, Escriou, Virginie, Crespy, Philippe, Journot, Laurent, Hollande, Frédéric, Joubert, Dominique
Publicado em 2012

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 em 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 no BMC Pediatr (2018)

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Por Cacciagli, Pierre, Sutera-Sardo, Julie, Borges-Correia, Ana, Roux, Jean-Christophe, Dorboz, Imen, Desvignes, Jean-Pierre, Badens, Catherine, Delepine, Marc, Lathrop, Mark, Cau, Pierre, Lévy, Nicolas, Girard, Nadine, Sarda, Pierre, Boespflug-Tanguy, Odile, Villard, Laurent
Publicado em 2013

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 no Haematologica (2017)

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Por Jobling, Rebekah K., Assoum, Mirna, Gakh, Oleksandr, Blaser, Susan, Raiman, Julian A., Mignot, Cyril, Roze, Emmanuel, Dürr, Alexandra, Brice, Alexis, Lévy, Nicolas, Prasad, Chitra, Paton, Tara, Paterson, Andrew D., Roslin, Nicole M., Marshall, Christian R., Desvignes, Jean-Pierre, Roëckel-Trevisiol, Nathalie, Scherer, Stephen W., Rouleau, Guy A., Mégarbané, André, Isaya, Grazia, Delague, Valérie, Yoon, Grace
Publicado no Brain (2015)

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 no PLoS One (2017)