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

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

Nanodiamonds Interact with Primary Human Macrophages and Dendritic Cells Evoking a Vigorous Interferon Response

纳米金刚石与原代人巨噬细胞和树突状细胞相互作用,诱发强烈的干扰素反应

Malina, Tomas; Kaur, Jasreen; Martin, Sebastin; Gallud, Audrey; Katayama, Shintaro; Gazzi, Arianna; Orecchioni, Marco; Petr, Martin; Šrejber, Martin; Haag, Lars; Hamawandi, Bejan; Toprak, Muhammet S; Kere, Juha; Delogu, Lucia Gemma; Fadeel, Bengt

Proficiency and Difficulty Scoring Tools for Finger Replantation

手指再植手术的熟练度和难度评分工具

Chung, Kevin C; Heiman, Adee; Malay, Sunitha; Geis, Emily R; Wang, Lu; Yoon, Alfred P; Benitez, Trista M; Han, Zihao; Giladi, Aviram M; Fleming, Isaac C; Gray, Daniel J; Zelenski, Nicole A; Gottschalk, Michael B; Wagner, Eric R; Desai, Karishma R; Griffin, Alessio M; Sabapathy, S Raja; Shanmugakrishnan, R Raja; Chandrasekar, Shruthi; Adkinson, Joshua M; Gardiner, Robin E; Das De, Soumen; Sebastin, Sandeep J; Premnadh, Hima; Teo, Jocelyn; Jain, Sonu A; Colvell, Kara; Ross, Phillip R; Valenti, Adam C

Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study

在TeleKidSeq试点研究中,调查通过远程医疗向不同家庭披露基因组检测结果时屏幕共享视觉辅助工具的影响

Odgis, Jacqueline A; Kelly, Nicole R; Sebastin, Monisha; Golfinopoulos, Laura; Insel, Beverly J; Suckiel, Sabrina A; Bonini, Katherine E; Marathe, Priya N; Di Biase, Miranda; Brown, Kaitlyn; Gallagher, Katie M; Ramos, Michelle A; Rodriguez, Jessica E; Yelton, Nicole; López Aguiñiga, Karla; Rodriguez, Michelle A; María, Estefany; Lopez, Jessenia; Zinberg, Randi E; Diaz, George A; Greally, John M; Abul-Husn, Noura S; Bauman, Laurie J; Gelb, Bruce D; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa P

Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure

患者和医护人员对使用 GUÍA 数字工具增强基因组检测结果披露的看法

Odgis, Jacqueline A; Suckiel, Sabrina A; Golfinopoulos, Laura; Kelly, Nicole R; Bonini, Katherine E; Marathe, Priya N; Gallagher, Katie M; Sebastin, Monisha; Di Biase, Miranda; Brown, Kaitlyn; Ramos, Michelle A; Zinberg, Randi E; Diaz, George A; Greally, John M; Abul-Husn, Noura S; Bauman, Laurie J; Gelb, Bruce D; Horowitz, Carol R; Wasserstein, Melissa P; Kenny, Eimear E

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

采用有效的招募和留任策略,吸引多元化的儿科人群参与基因组学研究

Ramos, Michelle A; Bonini, Katherine E; Scarimbolo, Laura; Kelly, Nicole R; Insel, Beverly; Suckiel, Sabrina A; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M; Lopez, Jessenia; Aguiñiga, Karla López; Marathe, Priya N; Maria, Estefany; Odgis, Jacqueline A; Rodriguez, Jessica E; Rodriguez, Michelle A; Ruiz, Nairovylex; Sebastin, Monisha; Yelton, Nicole M; Cunningham-Rundles, Charlotte; Gertner, Melvin; Laguerre, Irma; McDonald, Thomas V; McGoldrick, Patricia E; Robinson, Mimsie; Rubinstein, Arye; Shulman, Lisa H; Williams, Trinisha; Wolf, Steven M; Yozawitz, Elissa G; Zinberg, Randi E; Abul-Husn, Noura S; Bauman, Laurie J; Diaz, George A; Ferket, Bart S; Greally, John M; Jobanputra, Vaidehi; Gelb, Bruce D; Kenny, Eimear E; Wasserstein, Melissa P; Horowitz, Carol R

Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program

NYCKidSeq 项目中披露诊断测序结果后的医生服务和费用

Berkalieva, Asem; Kelly, Nicole R; Fisher, Ashley; Hohmann, Samuel F; Sebastin, Monisha; Di Biase, Miranda; Bonini, Katherine E; Marathe, Priya; Odgis, Jacqueline A; Suckiel, Sabrina A; Ramos, Michelle A; Rhodes, Rosamond; Abul-Husn, Noura S; Greally, John M; Horowitz, Carol R; Wasserstein, Melissa P; Kenny, Eimear E; Gelb, Bruce D; Ferket, Bart S

Comparative chloroplast genome analyses of cultivated and wild Capsicum species shed light on evolution and phylogeny

栽培和野生辣椒属植物的叶绿体基因组比较分析揭示了其进化和系统发育

Raveendar Sebastin #, Jaewook Kim #, Ick-Hyun Jo, Ju-Kyung Yu, Woojong Jang, Seahee Han, Hyun-Seung Park, Amal Mohamed AlGarawi, Ashraf Atef Hatamleh, Yoon-Sup So, Donghwan Shim, Jong-Wook Chung

Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population

在多元化、多语言人群中评估儿科基因和基因组检测对父母的个人实用性

Marathe, Priya N; Suckiel, Sabrina A; Bonini, Katherine E; Kelly, Nicole R; Scarimbolo, Laura; Insel, Beverly J; Odgis, Jacqueline A; Sebastin, Monisha; Ramos, Michelle A; Di Biase, Miranda; Gallagher, Katie M; Brown, Kaitlyn; Rodriguez, Jessica E; Yelton, Nicole; Aguiñiga, Karla Lopez; Rodriguez, Michelle A; Maria, Estefany; Lopez, Jessenia; Zinberg, Randi E; Diaz, George A; Greally, John M; Abul-Husn, Noura S; Bauman, Laurie J; Gelb, Bruce D; Wasserstein, Melissa P; Kenny, Eimear E; Horowitz, Carol R

Adrenal Pheochromocytoma: The Great Masquerader

肾上腺嗜铬细胞瘤:伪装大师

Daniel, Benjith; Sekar, Hariharasudhan; Palaniyandi, Velmurugan; Krishnamoorthy, Sriram; Sebastin, Josephine