Genome wide SNP comparative analysis between EGFR and KRAS mutated NSCLC and characterization of two models of oncogenic cooperation in non-small cell lung carcinoma

ανά Blons, Hélène, Pallier, Karine, Le Corre, Delphine, Danel, Claire, Tremblay-Gravel, Maxime, Houdayer, Claude, Fabre-Guillevin, Elizabeth, Riquet, Marc, Dessen, Philippe, Laurent-Puig, Pierre
Έκδοση 2008

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

ανά Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, Michaux, Dorothée, Asselain, Bernard, Castéra, Laurent, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Έκδοση 2009

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

ανά Dehainault, Catherine, Golmard, Lisa, Millot, Gaël A, Charpin, Agathe, Laugé, Anthony, Tarabeux, Julien, Aerts, Isabelle, Cassoux, Nathalie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Τόπος έκδοσης Eur J Hum Genet (2017)

A “dry and wet hybrid” lithography technique for multilevel replication templates: Applications to microfluidic neuron culture and two-phase global mixing

ανά Paul, Debjani, Saias, Laure, Pedinotti, Jean-Cedric, Chabert, Max, Magnifico, Sebastien, Pallandre, Antoine, De Lambert, Bertrand, Houdayer, Claude, Brugg, Bernard, Peyrin, Jean-Michel, Viovy, Jean-Louis
Έκδοση 2011

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

ανά Castéra, Laurent, Dehainault, Catherine, Michaux, Dorothée, Lumbroso-Le Rouic, Livia, Aerts, Isabelle, Doz, Francois, Pelet, Anna, Couturier, Jérôme, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude
Έκδοση 2013

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

ανά Fiévet, Alice, Bernard, Virginie, Tenreiro, Henrique, Dehainault, Catherine, Girard, Elodie, Deshaies, Vivien, Hupe, Philippe, Delattre, Olivier, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Golmard, Lisa, Houdayer, Claude
Τόπος έκδοσης Eur J Hum Genet (2019)

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

ανά Imbert‐Bouteille, Marion, Gauthier‐Villars, Marion, Leroux, Dominique, Meunier, Isabelle, Aerts, Isabelle, Lumbroso‐Le Rouic, Livia, Lejeune, Sophie, Delnatte, Capucine, Abadie, Caroline, Pujol, Pascal, Houdayer, Claude, Corsini, Carole
Τόπος έκδοσης Mol Genet Genomic Med (2019)

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

ανά Eloy, Philippine, Dehainault, Catherine, Sefta, Meriem, Aerts, Isabelle, Doz, François, Cassoux, Nathalie, Lumbroso le Rouic, Livia, Stoppa-Lyonnet, Dominique, Radvanyi, François, Millot, Gaël A., Gauthier-Villars, Marion, Houdayer, Claude
Τόπος έκδοσης PLoS Genet (2016)

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

ανά Thouvenot, Pierre, Ben Yamin, Barbara, Fourrière, Lou, Lescure, Aurianne, Boudier, Thomas, Del Nery, Elaine, Chauchereau, Anne, Goldgar, David E., Houdayer, Claude, Stoppa-Lyonnet, Dominique, Nicolas, Alain, Millot, Gaël A.
Τόπος έκδοσης PLoS Genet (2016)

Assessment of multiplex digital droplet RT-PCR as a diagnostic tool for SARS-CoV-2 detection in nasopharyngeal swabs and saliva samples

ανά Cassinari, Kévin, Alessandri-Gradt, Elodie, Chambon, Pascal, Charbonnier, Françoise, Gracias, Ségolène, Beaussire, Ludivine, Alexandre, Kevin, Sarafan-Vasseur, Nasrin, Houdayer, Claude, Etienne, Manuel, Caron, François, Plantier, Jean Christophe, Frebourg, Thierry
Τόπος έκδοσης Clin Chem (2021)

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

ανά Goldenberg, Alice, Marguet, Florent, Gilard, Vianney, Cardine, Aude-Marie, Hassani, Adnan, Doz, François, Radi, Sophie, Vasseur, Stéphanie, Bou, Jacqueline, Branchaud, Maud, Houdayer, Claude, Baert-Desurmont, Stéphanie, Laquerriere, Annie, Frebourg, Thierry
Τόπος έκδοσης Acta Neuropathol Commun (2019)

Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes

ανά Gelsi-Boyer, Véronique, Trouplin, Virginie, Adélaïde, José, Aceto, Nicola, Remy, Virginie, Pinson, Stephane, Houdayer, Claude, Arnoulet, Christine, Sainty, Danielle, Bentires-Alj, Mohamed, Olschwang, Sylviane, Vey, Norbert, Mozziconacci, Marie-Joëlle, Birnbaum, Daniel, Chaffanet, Max
Έκδοση 2008

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

ανά Tarabeux, Julien, Zeitouni, Bruno, Moncoutier, Virginie, Tenreiro, Henrique, Abidallah, Khadija, Lair, Séverine, Legoix-Né, Patricia, Leroy, Quentin, Rouleau, Etienne, Golmard, Lisa, Barillot, Emmanuel, Stern, Marc-Henri, Rio-Frio, Thomas, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Έκδοση 2014

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

ανά Salviat, Flore, Gauthier-Villars, Marion, Carton, Matthieu, Cassoux, Nathalie, Lumbroso-Le Rouic, Livia, Dehainault, Catherine, Levy, Christine, Golmard, Lisa, Aerts, Isabelle, Doz, François, Bonnet-Serrano, Fidéline, Hayek, Stéphanie, Savignoni, Alexia, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Τόπος έκδοσης JAMA Ophthalmol (2020)

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

ανά Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine de, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique
Έκδοση 2006

Reply to Salviati et al.

ανά Sanlaville, Damien, Delnatte, Capucine, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, de Blois, Marie-Christine, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique
Έκδοση 2006

Germline mutation in the RAD51B gene confers predisposition to breast cancer

ανά Golmard, Lisa, Caux-Moncoutier, Virginie, Davy, Grégoire, Al Ageeli, Essam, Poirot, Brigitte, Tirapo, Carole, Michaux, Dorothée, Barbaroux, Catherine, d’Enghien, Catherine Dubois, Nicolas, André, Castéra, Laurent, Sastre-Garau, Xavier, Stern, Marc-Henri, Houdayer, Claude, Stoppa-Lyonnet, Dominique
Έκδοση 2013

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

ανά Walker, Logan C., Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A. R., Hakkaart, Christopher, Cree, Simone L., Behar, Raquel, Houdayer, Claude, Investigators, kConFab, Parsons, Michael T., Kennedy, Martin A., Spurdle, Amanda B., de la Hoya, Miguel
Τόπος έκδοσης Front Genet (2019)

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

ανά Toland, Amanda Ewart, Forman, Andrea, Couch, Fergus J., Culver, Julie O., Eccles, Diana M., Foulkes, William D., Hogervorst, Frans B. L., Houdayer, Claude, Levy-Lahad, Ephrat, Monteiro, Alvaro N., Neuhausen, Susan L., Plon, Sharon E., Sharan, Shyam K., Spurdle, Amanda B., Szabo, Csilla, Brody, Lawrence C.
Τόπος έκδοσης NPJ Genom Med (2018)

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer

ανά Davy, Grégoire, Rousselin, Antoine, Goardon, Nicolas, Castéra, Laurent, Harter, Valentin, Legros, Angelina, Muller, Etienne, Fouillet, Robin, Brault, Baptiste, Smirnova, Anna S, Lemoine, Fréderic, de la Grange, Pierre, Guillaud-Bataille, Marine, Caux-Moncoutier, Virginie, Houdayer, Claude, Bonnet, Françoise, Blanc-Fournier, Cécile, Gaildrat, Pascaline, Frebourg, Thierry, Martins, Alexandra, Vaur, Dominique, Krieger, Sophie
Τόπος έκδοσης Eur J Hum Genet (2017)