日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Chronic exposure to a common azole fungicide is associated with reactivation of chronic Plasmodium infections in farmland birds

长期接触常用唑类杀菌剂与农田禽类慢性疟原虫感染的复发有关。

Pigeault, Romain; Bichet, Coraline; Bellot, Pauline; Brischoux, François; Fritsch, Clémentine; Angelier, Frédéric

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

神经纤维瘤病1型患者NF1点变异的精细基因型-表型相关性

Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus P G; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review

BRPF1相关疾病的表型和基因型谱:29例新病例及文献综述

Colson, Cindy; Tessarech, Marine; Boucher-Brischoux, Elise; Boute-Benejean, Odile; Vincent-Delorme, Catherine; Vanlerberghe, Clémence; Boussion, Simon; Cunff, Justine Le; Duban-Bedu, Bénédicte; Faivre, Laurence; Thauvin, Christel; Philippe, Christophe; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Houdayer, Clara; Lesca, Gaetan; Putoux, Audrey; Lévy, Jonathan; Patat, Olivier; Rio, Marlène; Ghoumid, Jamal; Smol, Thomas

Fading on the beach: pigmentation plasticity adjusts coloration to substrate type in coastal Western spadefoot toads

沙滩上的褪色:沿海西部铲足蟾的色素可塑性使其颜色适应基质类型

Lorrain-Soligon, Léa; Robin, Frédéric; Lelong, Vincent; Palier, Sébastien; Jankovic, Marko; Brischoux, François

The natural history of CDKL5 deficiency disorder into adulthood

CDKL5 缺乏症的自然病程直至成年期

Aledo-Serrano, Angel; Lewis-Smith, David; Leonard, Helen; Bayat, Allan; Junaid, Mohamed; Hagebeuk, Eveline; Fenger, Christina D; Laze, Juliana; Rossi, Alessandra; Trivisano, Marina; Gonzalez-Giraldez, Beatriz; Lama, Julio; Krey, Ilona; Platzer, Konrad; Brischoux-Boucher, Elise; Sarret, Catherine; Lomax, Lysa Boissé; Zanus, Caterina; Musante, Luciana; Costa, Paola; Moloney, Patrick; Delanty, Norman; Russo, Angelo; Schönewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Berger, Colette; Freri, Elena; Takahashi, Satoru; Zacher, Pia; Jung, Julien; Demarest, Scott; Marsh, Eric; Percy, Alan; Neul, Jeff; Olson, Heather; Swanson, Lindsay; Meletti, Stefano; Cioclu, Maria Cristina; Ali, Quratulain Z; Suller, Ana; Beltran-Corbellini, Alvaro; Gil-Nagel, Antonio; Zhang, Xiaoming; Previtali, Roberto; Højte, Anne F; Specchio, Nicola; Downs, Jenny; Lesca, Gaetan; Rubboli, Guido; Andrade, Danielle; Gardella, Elena; Pestana, Elia; Devinsky, Orrin; Benke, Timothy; Helbig, Ingo; Thomas, Rhys; Møller, Rikke S

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

CTNND2相关神经发育疾病的特征、表型-基因型谱以及早期神经发生过程中WNT信号通路的动态变化

Shahsavani, Mansoureh; Wincent, Josephine; Reiter, Ricarda; Soltysova, Andrea; Schuy, Jakob; Helgadottir, Hafdis T; Eisfeldt, Jesper; Ek, Marlene; Ficek, Andrej; Druschke, Lotta; Kusikova, Katarina; Hsieh, Tzung-Chien; Krichhoff, Aron; Krawitz, Peter; Li, Jing-Mei; Webersinke, Gerald; Gorokhova, Svetlana; Missirian, Chantal; Riccardi, Florence; Pavinato, Lisa; Brusco, Alfredo; Mandrile, Giorgia; Trajkova, Slavica; Pintus, Francesco; Gagachovska, Biljana; Waisfisz, Quinten; van Hagen, Annet; Bedoukian, Emma; Izumi, Kosuke; Granger, Leslie; Petersen, Andrea; Oegema, Renske; Huibers, Manon; Demurger, Florence; Brischoux-Boucher, Elise; Julia, Sophie; Banneau, Guillaume; Zavala, M Jesus; Lagos, Catalina; Repetto, Gabriela M; Jouret, Guillaume; Kentros, Catherine; Ganapathi, Mythily; Chung, Wendy K; May, Halie; Hiatt, Susan M; Kelley, Whitley V; Förster, Alisa; Olfe, Lisa; Shillington, Amelle; Dauriat, Benjamin; Mercier, Sandra; Cogné, Benjamin; Engel, Camille; Dahlen, Eric; Rosenberger, Georg; Sauvigny, Thomas; Abdallah, Hamza Hadj; Courtin, Thomas; Stray-Pedersen, Asbjørg; Bernat, John A; Paolillo, Vitoria K; Viso, Florencia Del; Alaimo, Joseph T; Thiffault, Isabelle; Farrow, Emily G; Cohen, Ana S A; Weis, Serge; Duba, Hans-Christoph; Nordgren, Ann; Falk, Anna; Weis, Denisa; Lindstrand, Anna

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

TRAF7相关多发性先天性异常-智力障碍综合征的心脏缺陷谱

Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T