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

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McBride, Kim L; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

The Role of Autophagy-Lysosomal Pathways in Photoreceptor Death in the rd10 Mouse Model of Inherited Retinal Degeneration.

自噬-溶酶体途径在rd10遗传性视网膜变性小鼠模型中光感受器死亡中的作用。

Vessey Kirstan A, Hosseini Naveh Nadia, Ehrlich Ophelia, Glover Allegra, Lee Joshua, Greferath Ursula, Jobling Andrew I, Fletcher Erica L

Near-source wastewater surveillance as a non-invasive tool for disease detection in prisons

监狱中利用近源废水监测进行疾病检测的非侵入性手段

O'Mara, O; Hassard, F; Jobling, K; Quintela-Baluja, M; McIntyre-Nolan, S; Lundy, L; Singer, A C; Rahimzadeh, S; Stanton, I; Castro-Gutierrez, V; Charlotte-Smith, H; Vu, M; Pedley, R; Adamou, P; Graham, D W; Di Cesare, M

Hepatic Expression of Growth Hormone Receptor (GHrec) and Insulin-like Growth Factor-I (IGF-I) Genes and Cellular Location of IGF-I mRNA in Diploid and Triploid Atlantic Salmon (Salmo salar) Undergoing Parr-Smolt Transformation

二倍体和三倍体大西洋鲑(Salmo salar)幼鲑-成鲑转化过程中生长激素受体(GHrec)和胰岛素样生长因子-I(IGF-I)基因的肝脏表达及IGF-I mRNA的细胞定位

Bortoletti, Martina; Fonsatti, Elisa; Maccatrozzo, Lisa; Peruzzi, Stefano; Jobling, Malcolm; Vascellari, Marta; Radaelli, Giuseppe; Bertotto, Daniela

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见病队列中的临床应用及分子层面的见解

Stark, Jamie C; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A; Yuki, Kyoko E; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M Ghahramani; Chard, Marisa; Jobling, Rebekah K; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D; Chitayat, David A; Boycott, Kym M; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R; Dowling, James J; Costain, Gregory; Deshwar, Ashish R

A Novel 3D High-Throughput Phenotypic Drug Screening Pipeline to Identify Drugs with Repurposing Potential for the Treatment of Ovarian Cancer.

一种新型 3D 高通量表型药物筛选流程,用于识别具有治疗卵巢癌潜力的药物

Karimnia Nazanin, Wilson Amy L, Doran Brittany R, Do Jennie, Matthews Amelia, Ho Gwo Y, Plebanski Magdalena, Jobling Thomas W, Stephens Andrew N, Bilandzic Maree

Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank

英国生物银行分析揭示了人类延伸的假常染色体区域的多种起源及其表型意义。

Poriswanish, Nitikorn; Eales, James; Xu, Xiaoguang; Scannali, David; Neumann, Rita; Wetton, Jon H; Tomaszewski, Maciej; Jobling, Mark A; May, Celia A

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroups

UYSD:一个可通过公共网站访问的新型数据存储库,用于存储全球人群中Y-SNP单倍群的频率信息。

Ralf, Arwin; Zandstra, Dion; van Wersch, Bram; Köksal, Zehra; Larmuseau, Maarten H D; Rosa, Alexandra; Jobling, Mark A; D'Amato, Maria E; Courts, Cornelius; Gysi, Mario; Haas, Cordula; Flores, Rodrigo; Neis, Maximilian; Wetton, Jon H; Kiesler, Kevin; Ameur, Adam; Azonbakin, Simon; Bôžiková, Alexandra; Choma, Andrej; De Ungria, Maria Corazon; Corradini, Beatrice; Cruz, Catarina; Dunkelmann, Bettina; Ferri, Gianmarco; Fleckhaus, Jan; Fragou, Domniki; Gaens, Noah; Gonçalves, Rita; Havaš Auguštin, Dubravka; Helm, Katharina; Hölzl-Müller, Petra; Kaliszan, Michał; Kasu, Mohaimin; Kovatsi, Leda; Lesaoana, Mpasi; Mizuno, Natsuko; Neuhuber, Franz; Nováčková, Jana; Ňuňuková, Alena; Pamjav, Horolma; Parson, Walther; Ramankulov, Yerlan; Rangel Villalobos, Héctor; Rębała, Krzysztof; Rootsi, Siiri; Salvador, Jazelyn; Šarac, Jelena; Steffen, Carolyn R; Stenzl, Vlastimil; Török, Tibor; Villems, Richard; Watahiki, Haruhiko; Zhabagin, Maxat; Schneider, Peter M; Kayser, Manfred