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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

A genomic approach for accurate identification of closely related species with next-generation sequencing samples

利用新一代测序样本进行近缘物种精确鉴定的基因组学方法

Dain Marzouka, Nour Al; Al-Aamri, Amira; Alshamsi, Fatima; Khalili, Mariam; Chehadeh, Sarah El Hajj; Mohamed, Meera S; Eltahir, Yassir Mohammed; Koliyan, Rafeek; Abdelhalim, Mohamed Moustafa; Attia, Assem; Mousa, Mira; Tay, Guan; Alsafar, Habiba

Peripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases

血管超声检测到的外周动脉病变及其与遗传性胸主动脉疾病中主动脉事件的关联

Mongault, Maxime; Hamade, Amer; Mirea, Corina; Ohlmann, Patrick; Billaud, Philippe; Lejay, Anne; Chehadeh, Salima El; Cordeanu, Elena-Mihaela; Stephan, Dominique

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

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

在法国医疗保健体系中,以基因组测序诊断智力障碍作为罕见病诊断的范例:前瞻性 DEFIDIAG 研究

El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène

Multi-omics analysis of bariatric surgery's impact on type 2 diabetes and prediabetes

减重手术对2型糖尿病和糖尿病前期影响的多组学分析

Almazrouei, Balqees; Mousa, Mira; Barreiros, Andre; Al Dain Marzouka, Nour; Olbrich, Michael; Ramachandran, Sanjay; Sreedharan, Sreejisha P; Azzam, Sarah K; El Hajj Chehadeh, Sarah; Rodriguez, John; Pantoja, Juan P; Raza, Javed; Del Gobbo, Gabriel Diaz; Abdallah, Mohammed; Barajas-Gamboa, Juan S; Ashraf, Syed Salman; Abril, Carlos; Al Bataineh, Mohammad; Al Safar, Habiba

Biodegradation of petroleum tar in contaminated sediments of the Eastern Mediterranean shores and associated microbial dynamics

东地中海沿岸受污染沉积物中石油焦油的生物降解及其相关的微生物动态

Al Haj Chehadeh, Baraa; Ali Ahmad, Farah; Salam, Darine A

Extended Survival in a Dog with Primary Bone Hemangiosarcoma Following Treatment with Neoadjuvant Oncolytic Virotherapy and Standard of Care

接受新辅助溶瘤病毒疗法和标准治疗后,患有原发性骨血管肉瘤的犬只生存期延长

Labé, Courtney; Chehadeh, Andrea; Winter, Amber; Pracht, Sara; Stuebner, Kathy M; Lewellen, Mitzi; Eskander, Bishoy; O'Sullivan, M Gerard; Tabaran, Alexandru-Flaviu; Ober, Christopher; Henson, Michael S; Seelig, Davis; Russell, Steve J; Modiano, Jaime F; Naik, Shruthi; Makielski, Kelly M

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

Younger Age Is Associated with Favorable Outcomes in Adult Dogs with Hemangiosarcoma Receiving Adjuvant Doxorubicin Chemotherapy: Results from the PRO-DOX Study.

年龄较轻与接受辅助多柔比星化疗的血管肉瘤成年犬的良好预后相关:PRO-DOX 研究的结果

Borgatti Antonella, Husbands Brian D, Sarver Aaron L, Chacón Jeremy M, DeFor Todd E, Rendahl Aaron, Henson Michael S, Modiano Jaime F, Stuebner Kathleen M, Winter Amber L, Scavello Heather, Pracht Sara, Chehadeh Andrea, Bergsrud Kelly, Feiock Caitlin, Anderson Bailey, Kenney Sarah, Atherton Matthew J, Salah Pascale C, Mahoney Jennifer, Brown David R, Childress Michael O, Dickerson Erin B