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收藏Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech解读无智力障碍，自闭症或言语失用症儿童的发展性语言障碍的遗传基础
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 分享 收藏 Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique使用VNtyper这一新型遗传技术诊断的ADTKD-MUC1表型异质性Kachmar, J; Saei, H; Morinière, V; Heidet, L; Knebelmann, B; Gribouval, O; Mautret-Godefroy, M; Burtey, S; Vuiblet, V; Alla, A; Ibalanky, A; Moranne, O; Nizon, M; Savenkoff, B; Nitschké, P; Antignac, C; Dorval, G 分享 收藏 Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept来自患者尿细胞的靶向RNAseq以验证常染色体显性多囊肾病基因中的致病性非编码变异: 概念证明Dorval, Guillaume; Le Gac, Gerald; Moriniere, Vincent; Ka, Chandran; Goursaud, Claire; Knebelmann, Bertrand; Marijon, Pierre; Nambot, Sophie; Cagnard, Nicolas; Nitschke, Patrick; Michel-Calemard, Laurence; Audrezet, Marie-Pierre; Heidet, Laurence 分享 收藏 Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell LymphomaIto, Yuta; Marouf, Amira; Kogure, Yasunori; Koya, Junji; Lievin, Raphael; Bruneau, Julie; Tabata, Mariko; Saito, Yuki; Shingaki, Sumito; Yuasa, Mitsuhiro; Yamaguchi, Kentaro; Murakami, Koichi; Weil, Robert; Vavasseur, Manon; Andrieu, Guillaume P.; Latiri, Mehdi; Veleanu, Layla; Dussiot, Michael; Andre, Isabelle; Joshi, Akshay; Lagresle-Peyrou, Chantal; Magerus, Aude; Chaubard, Sammara; Lavergne, David; Bachy, Emmanuel; Brunet, Erika; Fataccioli, Virginie; Brouzes, Chantal; Laurent, Camille; de Leval, Laurence; Traverse-Glehen, Alexandra; Bossard, Celine; Parrens, Marie; Meignin, Veronique; Philippe, Laure; Rossignol, Julien; Suarez, Felipe; Michot, Jean-Marie; Tournilhac, Olivier; Damaj, Gandhi; Lemonnier, Francois; Bole-Feysot, Christine; Nitschke, Patrick; Tesson, Bruno; Laurent, Cecile; Molina, Thierry; Asnafi, Vahid; Watatani, Yosaku; Chiba, Kenichi; Okada, Ai; Shiraishi, Yuichi; Tsukita, Sachiko; Izutsu, Koji; Miyoshi, Hiroaki; Ohshima, Koichi; Sakata, Seiji; Dobashi, Akito; Takeuchi, Kengo; Sanada, Masashi; Gaulard, Philippe; Jaccard, Arnaud; Ogawa, Seishi; Hermine, Olivier; Kataoka, Keisuke; Couronne, Lucile 分享 收藏 Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structuresDidier-Mathon, Hortense; Stoupa, Athanasia; Kariyawasam, Dulanjalee; Yde, Sonny; Cochant-Priollet, Beatrix; Groussin, Lionel; Sebag, Frederic; Cagnard, Nicolas; Nitschke, Patrick; Luton, Dominique; Polak, Michel; Carre, Aurore 分享 收藏 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 分享 收藏 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 分享 收藏 Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect胼胝体缺损的产前线粒体疾病的神经病理学标志Boutaud, Lucile; Ruzzenente, Benedetta; Tessier, Aude; Anselem, Olivia; Pannier, Emmanuelle; Grotto, Sarah; Talhi, Naima; Amram, Daniel; Willems, Marjolaine; Wells, Constance; Blanchet, Patricia; Musizzano, Yuri; Jauny, Clemence; Nitschke, Patrick; Bole-Feysot, Christine; Bessieres, Bettina; Salhi, Houria; Achaiaa, Amale; Metodiev, Metodi D.; Razavi, Ferechte; Rotig, Agnes; Loeuilllet, Laurence; Attie-Bitach, Tania 分享 收藏 iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cellsMouka, Aurelie; Arkoun, Brahim; Moison, Pauline; Drevillon, Loic; Jarray, Rafika; Brisset, Sophie; Mayeur, Anne; Bouligand, Jerome; Boland-Auge, Anne; Deleuze, Jean-Francois; Yates, Frank; Lemonnier, Thomas; Callier, Patrick; Duffourd, Yannis; Nitschke, Patrick; Ollivier, Emmanuelle; Bourdin, Arnaud; De Vos, John; Livera, Gabriel; Tachdjian, Gerard; Maouche-Chretien, Leila; Tosca, Lucie 分享 收藏 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 分享 收藏 Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversityDos Reis, Raphael; Kornobis, Etienne; Pereira, Alyssa; Tores, Frederic; Carrasco, Judit; Gautier, Candice; Jahannault-Talignani, Celine; Nitschke, Patrick; Muchardt, Christian; Schlosser, Andreas; Maric, Hans Michael; Ango, Fabrice; Allemand, Eric 分享 收藏 Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function (vol 130, pg 335, 2020)Bedin, Mathilda; Boyer, Olivia; Servais, Aude; Li, Yong; Villoing-Gaude, Laure; Tete, Marie-Josephe; Cambier, Alexandra; Hogan, Julien; Baudouin, Veronique; Krid, Saoussen; Bensman, Albert; Lammens, Florie; Louillet, Ferielle; Ranchin, Bruno; Vigneau, Cecile; Bouteau, Iseline; Isnard-Bagnis, Corinne; Mache, Christoph J.; Schafer, Tobias; Pape, Lars; Godel, Markus; Huber, Tobias B.; Benz, Marcus; Klaus, Gunter; Hansen, Matthias; Latta, Kay; Gribouval, Olivier; Moriniere, Vincent; Tournant, Carole; Grohmann, Maik; Kuhn, Elisa; Wagner, Timo; Bole-Feysot, Christine; Jabot-Hanin, Fabienne; Nitschke, Patrick; Ahluwalia, Tarunveer S.; Kottgen, Anna; Andersen, Christian Brix Folsted; Bergmann, Carsten; Antignac, Corinne; Simons, Matias 分享 收藏 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencingNicolle, Romain; Siquier-Pernet, Karine; Rio, Marlene; Guimier, Anne; Ollivier, Emmanuelle; Nitschke, Patrick; Bole-Feysot, Christine; Romana, Serge; Hastie, Alex; Cantagrel, Vincent; Malan, Valerie 分享 收藏 A Humanized Mouse Strain That Develops Spontaneously Immune-Mediated DiabetesLuce, Sandrine; Guinoiseau, Sophie; Gadault, Alexis; Letourneur, Franck; Nitschke, Patrick; Bras, Marc; Vidaud, Michel; Charneau, Pierre; Larger, Etienne; Colli, Maikel L.; Eizirik, Decio L.; Lemonnier, Francois; Boitard, Christian 分享 收藏 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 分享 收藏 分享 收藏 High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to DyshormonogenesisStoupa, Athanasia; Al Hage Chehade, Ghada; Chaabane, Rim; Kariyawasam, Dulanjalee; Szinnai, Gabor; Hanein, Sylvain; Bole-Feysot, Christine; Fourrage, Cecile; Nitschke, Patrick; Thalassinos, Caroline; Pinto, Graziella; Mnif, Mouna; Baron, Sabine; De Kerdanet, Marc; Reynaud, Rachel; Barat, Pascal; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carre, Aurore 分享 收藏 Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencingFusaro, Mathieu; Rosain, Jeremie; Grandin, Virginie; Lambert, Nathalie; Hanein, Sylvain; Fourrage, Cecile; Renaud, Nicholas; Gil, Marine; Chevalier, Samuel; Abou Chahla, Wadih; Bader-Meunier, Brigitte; Barlogis, Vincent; Blanche, Stephane; Boutboul, David; Castelle, Martin; Comont, Thibault; Diana, Jean-Sebastien; Fieschi, Claire; Galicier, Lionel; Hermine, Olivier; Lefevre-Utile, Alain; Malphettes, Marion; Merlin, Etienne; Oksenhendler, Eric; Pasquet, Marlene; Suarez, Felipe; Andre, Isabelle; Beziat, Vivien; de Saint Basile, Genevieve; De Villartay, Jean-Pierre; Kracker, Sven; Lagresle-Peyrou, Chantal; Latour, Sylvain; Rieux-Laucat, Frederic; Mahlaoui, Nizar; Bole, Christine; Nitschke, Patrick; Hulier-Ammar, Elisabeth; Fischer, Alain; Moshous, Despina; Neven, Benedicte; Alcais, Alexandre; Vogt, Guillaume; Bustamante, Jacinta; Picard, Capucine 分享 收藏 
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