Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis von Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma

Volltext

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy von Lesage, Suzanne, Deramecourt, Vincent, Jacoupy, Maxime, Hassoun, Sidi Mohamed, Pujol, Claire, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Corvol, Jean-Christophe, Krack, Paul, Hernandez, Dena G., Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Corti, Olga, Brice, Alexis, Lesage, Suzanne, Tison, François, Vidailhet, Marie, Corvol, Jean-Christophe, Agid, Yves, Anheim, Mathieu, Bonnet, Anne-Marie, Borg, Michel, Broussolle, Emmanuel, Durif, Franck, Krack, Paul, Klebe, Stephan, Lohmann, Ebba, Vérin, Marc, Viallet, François, Brice, Alexis, Majounie, Elisa, Corvol, Jean Christophe, Ben-Shlomo, Yoav, Berg, Daniela, Bhatia, Kailash, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Burn, David J., Chen, Honglei, Clarke, Carl E., Cookson, Mark R., Counsell, Carl, van Dijk, Karin D., Dong, Jing, Escott-Price, Valentina, Evans, Jonathan R., Gray, Emma, Guerreiro, Rita, van Hilten, Jacobus J., Hollenbeck, Albert, Holmans, Peter, Hu, Michèle, Hudson, Gavin, Hunt, Sarah E., Kilarski, Laura L., Jansen, Iris E., Langford, Cordelia, Lees, Andrew, Lorenz, Delia, Lubbe, Steven, Lungu, Codrin, Martinez, María, Mätzler, Walter, McNeill, Alisdair, Moorby, Catriona, O’Sullivan, Sean S., Pearson, Justin, Ravina, Bernard, Rivadeneira, Fernando, Ryten, Mina, Schapira, Anthony, Sharma, Manu, Sheerin, Una-Marie, Sidransky, Ellen, Spencer, Chris C.A., Stefánsson, Kári, Strange, Amy, Talbot, Kevin, Trabzuni, Daniah, Uitterlinden, André G., van de Warrenburg, Bart, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Hardy, John, Wood, Nicholas W.

Volltext

A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies von Hardy, Lise M., Bouyacoub, Yosra, Daunay, Antoine, Sahbatou, Mourad, Baudrin, Laura G., Gressin, Laetitia, Touvier, Mathilde, Blanché, Hélène, Deleuze, Jean-François, How-Kit, Alexandre

Volltext

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype von Brems, Hilde, Chmara, Magdalena, Sahbatou, Mourad, Denayer, Ellen, Taniguchi, Koji, Kato, Reiko, Somers, Riet, Messiaen, Ludwine, De Schepper, Sofie, Fryns, Jean-Pierre, Cools, Jan, Marynen, Peter, Thomas, Gilles, Yoshimura, Akihiko, Legius, Eric

Volltext

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24 von Zanke, Brent W, Greenwood, Celia MT, Rangrej, Jagadish, Kustra, Rafal, Tenesa, Albert, Farrington, Susan M, Prendergast, James, Olschwang, Sylviane, Chiang, Theodore, Crowdy, Edgar, Ferretti, Vincent, Laflamme, Philippe, Sundararajan, Saravanan, Roumy, Stéphanie, Olivier, Jean-François, Robidoux, Frédérick, Sladek, Robert, Montpetit, Alexandre, Campbell, Peter, Bezieau, Stephane, O'Shea, Anne Marie, Zogopoulos, George, Cotterchio, Michelle, Newcomb, Polly, McLaughlin, John, Younghusband, Ban, Green, Roger, Green, Jane, Porteous, Mary E M, Campbell, Harry, Blanche, Helene, Sahbatou, Mourad, Tubacher, Emmanuel, Bonaiti-Pellié, Catherine, Buecher, Bruno, Riboli, Elio, Kury, Sebastien, Chanock, Stephen J, Potter, John, Thomas, Gilles, Gallinger, Steven, Hudson, Thomas J, Dunlop, Malcolm G

Volltext

Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoter von Garali, Imene, Sahbatou, Mourad, Daunay, Antoine, Baudrin, Laura G., Renault, Victor, Bouyacoub, Yosra, Deleuze, Jean-François, How-Kit, Alexandre

Volltext

High level of inbreeding in final phase of 1000 Genomes Project von Gazal, Steven, Sahbatou, Mourad, Babron, Marie-Claude, Génin, Emmanuelle, Leutenegger, Anne-Louise

Volltext

A new F-box protein 7 gene mutation causing typical Parkinson's disease von Lohmann, Ebba, Coquel, Anne-Sophie, Honoré, Aurélie, Gurvit, Hakan, Hanagasi, Hasmet, Emre, Murat, Leutenegger, Anne L., Drouet, Valérie, Sahbatou, Mourad, Guven, Gamze, Erginel-Unaltuna, Nihan, Deleuze, Jean-Francois, Lesage, Suzanne, Brice, Alexis

Volltext

Constitutional DNA Polymorphisms Associated with the Plasma Imatinib Concentration in Chronic Myeloid Leukemia Patients von Bruzzoni-Giovanelli, Heriberto, Zouali, Habib, Sahbatou, Mourad, Maneglier, Benjamin, Cayuela, Jean-Michel, Rebollo, Angelita, Marin, Gustavo H, Geromin, Daniela, Tomczak, Carole, Alberdi, Antonio, Deleuze, Jean-Francois, Rousselot, Philippe

Volltext

Correction to: The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long‑lived French individuals and their offspring for longevity stu... von How‑Kit, Alexandre, Sahbatou, Mourad, Hardy, Lise M., Tessier, Nicolas P., Schiavon, Valérie, Le Buanec, Hélène, Sebaoun, Jean‑Marc, Blanché, Hélène, Zagury, Jean‑François, Deleuze, Jean‑François

Volltext

The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long-lived French individuals and their offspring for longevity studies von How-Kit, Alexandre, Sahbatou, Mourad, Hardy, Lise M., Tessier, Nicolas P., Schiavon, Valérie, Le Buanec, Hélène, Sebaoun, Jean-Marc, Blanché, Hélène, Zagury, Jean-François, Deleuze, Jean-François

Volltext

SREBF-1 Gene Polymorphisms Are Associated With Obesity and Type 2 Diabetes in French Obese and Diabetic Cohorts von EBERLE, Delphine, CLEMENT, Karine, MEYRE, David, SAHBATOU, Mourad, VAXILLAIRE, Martine, LE GALL, Annie, FERRE, Pascal, BASDEVANT, Arnaud, FROGUEL, Philippe, FOUFELLE, Fabienne

Volltext

Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort von Pivot, Xavier, Romieu, Gilles, Fumoleau, Pierre, Rios, Maria, Bonnefoi, Hervé, Bachelot, Thomas, Soulié, Patrick, Jouannaud, Christelle, Bourgeois, Hugues, Petit, Thierry, Tennevet, Isabelle, Assouline, David, Mathieu, Marie-Christine, Jacquin, Jean-Philippe, Lavau-Denes, Sandrine, Darut-Jouve, Ariane, Ferrero, Jean-Marc, Tarpin, Carole, Lévy, Christelle, Delecroix, Valérie, Trillet-Lenoir, Véronique, Cojocarasu, Oana, Meunier, Jérôme, Pierga, Jean-Yves, Agostini, Cécile, Kerbrat, Pierre, Faure-Mercier, Céline, Blanché, Hélène, Sahbatou, Mourad, Boland, Anne, Bacq, Delphine, Besse, Céline, Calvo, Fabien, Renaud, Alexia, Deleuze, Jean-François, Pauporté, Iris, Thomas, Gilles, Cox, David G.

Volltext

Centenarians consistently present a younger epigenetic age than their chronological age with four epigenetic clocks based on a small number of CpG sites von Daunay, Antoine, Hardy, Lise M., Bouyacoub, Yosra, Sahbatou, Mourad, Touvier, Mathilde, Blanché, Hélène, Deleuze, Jean-François, How-Kit, Alexandre

Volltext

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis von Farrell, Philip, Férec, Claude, Macek, Milan, Frischer, Thomas, Renner, Sabine, Riss, Katharina, Barton, David, Repetto, Teresa, Tzetis, Maria, Giteau, Karine, Duno, Morten, Rogers, Melissa, Levy, Hara, Sahbatou, Mourad, Fichou, Yann, Le Maréchal, Cédric, Génin, Emmanuelle

Volltext

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum von Sarasin, Alain, Quentin, Samuel, Droin, Nathalie, Sahbatou, Mourad, Saada, Véronique, Auger, Nathalie, Boursin, Yannick, Dessen, Philippe, Raimbault, Anna, Asnafi, Vahid, Schmutz, Jean-Luc, Taïeb, Alain, Menck, Carlos F.M., Rosselli, Filippo, La Rochelle, Laurianne Drieu, Robert, Caroline, Sicre de Fontbrune, Flore, Sébert, Marie, Leblanc, Thierry, Kannouche, Patricia, De Botton, Stéphane, Solary, Eric, Soulier, Jean

Volltext

FSuite: exploiting inbreeding in dense SNP chip and exome data von Gazal, Steven, Sahbatou, Mourad, Babron, Marie-Claude, Génin, Emmanuelle, Leutenegger, Anne-Louise

Volltext

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA von Edery, Patrick, Marcaillou, Charles, Sahbatou, Mourad, Labalme, Audrey, Chastang, Joelle, Touraine, Renaud, Tubacher, Emmanuel, Senni, Faiza, Bober, Michael B., Nampoothiri, Sheela, Jouk, Pierre-Simon, Steichen, Elisabeth, Berland, Siren, Toutain, Annick, Wise, Carol A., Sanlaville, Damien, Rousseau, Francis, Clerget-Darpoux, Françoise, Leutenegger, Anne-Louise

Volltext

Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E‐ice‐COLD‐PCR von How‐Kit, Alexandre, Daunay, Antoine, Buhard, Olivier, Meiller, Clément, Sahbatou, Mourad, Collura, Ada, Duval, Alex, Deleuze, Jean‐François

Volltext

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? von Leutenegger, Anne-Louise, Sahbatou, Mourad, Gazal, Steven, Cann, Howard, Génin, Emmanuelle

Volltext