Not logged inDeciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech
Ormieres, Clothilde; Lesieur-Sebellin, Marion; Siquier-Pernet, Karine; Delplancq, Geoffroy; Rio, Marlene; Parisot, Melanie; Nitschke, Patrick; Rodriguez-Fontenla, Cristina; Bodineau, Alison; Narcy, Lucie; Schlumberger, Emilie; Cantagrel, Vincent; Malan, Valerie .png)
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SaveOverexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1 Knockout MiceZerad, Lisa; Gacem, Nadjet; Gayda, Fanny; Day, Lucie; Sinigaglia, Ketty; Richard, Laurence; Parisot, Melanie; Cagnard, Nicolas; Mathis, Stephane; Bole-Feysot, Christine; O'Connell, Mary A.; Pingault, Veronique; Dambroise, Emilie; Keegan, Liam P.; Vallat, Jean Michel; Bondurand, Nadege Share Save Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndromeConsonni, Filippo; Moreno, Solange; Colell, Blanca Vinuales; Stolzenberg, Marie-Claude; Fernandes, Alicia; Parisot, Melanie; Masson, Cecile; Neveux, Nathalie; Rosain, Jeremie; Bamberger, Sarah; Vigue, Marie-Gabrielle; Malphettes, Marion; Quartier, Pierre; Picard, Capucine; Rieux-Laucat, Frederic; Magerus, Aude Share Save Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress responsede Cevins, Camille; Delage, Laure; Batignes, Maxime; Riller, Quentin; Luka, Marine; Remaury, Anne; Sorin, Boris; Fali, Tinhinane; Masson, Cecile; Hoareau, Benedicte; Meunier, Catherine; Parisot, Melanie; Zarhrate, Mohammed; Perot, Brieuc P.; Garcia-Paredes, Victor; Carbone, Francesco; Galliot, Lou; Nal, Beatrice; Pierre, Philippe; Canard, Luc; Boussard, Charlotte; Crickx, Etienne; Guillemot, Jean-Claude; Bader-Meunier, Brigitte; Belot, Alexandre; Quartier, Pierre; Fremond, Marie-Louise; Neven, Benedicte; Boldina, Galina; Auge, Franck; Alain, Fischer; Didier, Michel; Rieux-Laucat, Frederic; Menager, Mickaoel M. Share Save Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4Traore, Meriem Garfa; Roccio, Federica; Miceli, Caterina; Ferri, Giulia; Parisot, Melanie; Cagnard, Nicolas; Lhomme, Marie; Dupont, Nicolas; Benmerah, Alexandre; Saunier, Sophie; Delous, Marion Share Save A wave of deep intronic mutations in X-linked Alport syndromeBoisson, Marie; Arrondel, Christelle; Cagnard, Nicolas; Moriniere, Vincent; Arkoub, Zaina Ait; Saei, Hassan; Heidet, Laurence; Kachmar, Jessica; Hummel, Aurelie; Knebelmann, Bertrand; Bonnet-Dupeyron, Marie-Noelle; Isidor, Bertrand; Izzedine, Hassane; Legrand, Eric; Couarch, Philippe; Gribouval, Olivier; Bole-Feysot, Christine; Parisot, Melanie; Nitschke, Patrick; Antignac, Corinne; Dorval, Guillaume Share Save NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cellsDelage, Laure; Carbone, Francesco; Riller, Quentin; Zachayus, Jean-Luc; Kerbellec, Erwan; Buzy, Armelle; Stolzenberg, Marie-Claude; Luka, Marine; de Cevins, Camille; Kalouche, Georges; Favier, Remi; Michel, Alizee; Meynier, Sonia; Corneau, Aurelien; Evrard, Caroline; Neveux, Nathalie; Roudieres, Sebastien; Perot, Brieuc P.; Fusaro, Mathieu; Lenoir, Christelle; Pelle, Olivier; Parisot, Melanie; Bras, Marc; Heritier, Sebastien; Leverger, Guy; Korganow, Anne-Sophie; Picard, Capucine; Latour, Sylvain; Collet, Benedicte; Fischer, Alain; Neven, Benedicte; Magerus, Aude; Menager, Mickael; Pasquier, Benoit; Rieux-Laucat, Frederic Share Save Exploring the genetic landscape of HCV-related B-cell lymphomas using whole exome sequencingArmand, Marine; Degaud, Michael; Tesson, Bruno; Laurent, Cecile; Vavasseur, Manon; Parisot, Melanie; Hoareau-Coudert, Benedicte; Canioni, Danielle; Michot, Jean Marie; Charlotte, Frederic; Meignin, Veronique; Laurent, Camille; Traverse-Glehen, Alexandra; Damotte, Diane; Bachy, Emmanuel; Besson, Caroline; Hermine, Olivier; Davi, Frederic; Couronne, Lucile Share Save Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medullaTessier, Aude; Roux, Nathalie; Boutaud, Lucile; Lunel, Elodie; Hakkakian, Leila; Parisot, Melanie; Garfa-Traore, Meriem; Ichkou, Amale; Elkhartoufi, Nadia; Bole, Christine; Nitschke, Patrick; Amiel, Jeanne; Martinovic, Jelena; Encha-Razavi, Ferechte; Attie-Bitach, Tania; Thomas, Sophie Share Save BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematologyFouquet, Guillemette; Rossignol, Julien; Ricard, Laure; Guillem, Flavia; Couronne, Lucile; Asnafi, Vahid; Vavasseur, Manon; Parisot, Melanie; Garcelon, Nicolas; Rieux-Laucat, Frederic; Mekinian, Arsene; Hermine, Olivier Share Save Somatic genetic rescue of a germline ribosome assembly defect (vol 12, 5044, 2021)Tan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick Share Save UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical traffickingDuclaux-Loras, Remi; Lebreton, Corinne; Berthelet, Jeremy; Charbit-Henrion, Fabienne; Nicolle, Ophelie; de Courtils, Celine Revenu; Waich, Stephanie; Valovka, Taras; Khiat, Anis; Rabant, Marion; Racine, Caroline; Guerrera, Ida Chiara; Baptista, Julia; Mahe, Maxime M.; Hess, Michael W.; Durel, Beatrice; Lefort, Nathalie; Banal, Celine; Parisot, Melanie; Talbotec, Cecile; Lacaille, Florence; Ecochard-Dugelay, Emmanuelle; Demir, Arzu Meltem; Vogel, Georg F.; Faivre, Laurence; Rodrigues, Astor; Fowler, Darren; Janecke, Andreas R.; Mueller, Thomas; Huber, Lukas A.; Rodrigues-Lima, Fernando; Ruemmele, Frank M.; Uhlig, Holm H.; Bene, Filippo Del; Michaux, Gregoire; Cerf-Bensussan, Nadine; Parlato, Marianna Share Save Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetesPerez-Marti, Albert; Ramakrishnan, Suresh; Li, Jiayi; Dugourd, Aurelien; Molenaar, Martijn R.; De la Motte, Luigi R.; Grand, Kelli; Mansouri, Anis; Parisot, Melanie; Lienkamp, Soeren S.; Saez-Rodriguez, Julio; Simons, Matias Share Save A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditisde Cevins, Camille; Luka, Marine; Smith, Nikaia; Meynier, Sonia; Magerus, Aude; Carbone, Francesco; Garcia-Paredes, Victor; Barnabei, Laura; Batignes, Maxime; Boulle, Alexandre; Stolzenberg, Marie-Claude; Perot, Brieuc P.; Charbit, Bruno; Fali, Tinhinane; Pirabakaran, Vithura; Sorin, Boris; Riller, Quentin; Abdessalem, Ghaith; Beretta, Maxime; Grzelak, Ludivine; Goncalves, Pedro; Di Santo, James P.; Mouquet, Hugo; Schwartz, Olivier; Zarhrate, Mohammed; Parisot, Melanie; Bole-Feysot, Christine; Masson, Cecile; Cagnard, Nicolas; Corneau, Aurelien; Brunaud, Camille; Zhang, Shen-Ying; Casanova, Jean-Laurent; Bader-Meunier, Brigitte; Haroche, Julien; Melki, Isabelle; Lorrot, Mathie; Oualha, Mehdi; Moulin, Florence; Bonnet, Damien; Belhadjer, Zahra; Leruez, Marianne; Allali, Slimane; Gras-Leguen, Christele; de Pontual, Loic; Fischer, Alain; Duffy, Darragh; Rieux-Laucat, Frederic; Toubiana, Julie; Menager, Mickael M. Share Save Somatic genetic rescue of a germline ribosome assembly defectTan, Shengjiang; Kermasson, Laetitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z.; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bole-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cecile; Nitschke, Patrick; Parisot, Melanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frederic; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J.; Bellanne-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, Francois; Donadieu, Jean; Warren, Alan J.; Revy, Patrick Share Save Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutationsTilley, F. C.; Arrondel, C.; Chhuon, C.; Boisson, M.; Cagnard, N.; Parisot, M.; Menara, G.; Lefort, N.; Guerrera, I. C.; Bole-Feysot, C.; Benmerah, A.; Antignac, C.; Mollet, G. Share Save Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis SuppurativaDuchatelet, Sabine; Miskinyte, Snaigune; Delage, Maia; Ungeheuer, Marie-Noelle; Lam, Thi; Benhadou, Farida; Marmol, Veronique Del; Vossen, Allard R. J. V.; Prens, Errol P.; Cogrel, Olivier; Beylot-Barry, Marie; Girard, Celine; Vidil, Julien; Join-Lambert, Olivier; Parisot, Melanie; Nitschke, Patrick; Hanein, Sylvain; Fraitag, Sylvie; Zee, Hessel H. Van der; Bessis, Didier; Damiani, Giovanni; Altomare, Andrea; Liao, Yi-Hua; Nikolakis, Georgios; Zouboulis, Christos C.; Nassif, Aude; Hovnaian, Alain Share Save Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T. Share Save ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell developmentGacem, Nadjet; Kavo, Anthula; Zerad, Lisa; Richard, Laurence; Mathis, Stephane; Kapur, Raj P.; Parisot, Melanie; Amiel, Jeanne; Dufour, Sylvie; de la Grange, Pierre; Pingault, Veronique; Vallat, Jean Michel; Bondurand, Nadege Share Save Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndromeArrondel, Christelle; Missoury, Sophia; Snoek, Rozemarijn; Patat, Julie; Menara, Giulia; Collinet, Bruno; Liger, Dominique; Durand, Dominique; Gribouval, Olivier; Boyer, Olivia; Buscara, Laurine; Martin, Gaelle; Machuca, Eduardo; Nevo, Fabien; Lescop, Ewen; Braun, Daniela A.; Boschat, Anne-Claire; Sanquer, Sylvia; Guerrera, Ida Chiara; Revy, Patrick; Parisot, Mlanie; Masson, Ccile; Boddaert, Nathalie; Charbit, Marina; Decramer, Stphane; Novo, Robert; Macher, Marie-Alice; Ranchin, Bruno; Bacchetta, Justine; Laurent, Audrey; Collardeau-Frachon, Sophie; van Eerde, Albertien M.; Hildebrandt, Friedhelm; Magen, Daniella; Antignac, Corinne; van Tilbeurgh, Herman; Mollet, Geraldine Share Save 
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