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

Whole-genome resequencing of the wild barley diversity collection: a resource for identifying and exploiting genetic variation for cultivated barley improvement

野生大麦多样性种质资源库的全基因组重测序:为识别和利用遗传变异改良栽培大麦提供资源

Spanner, Rebecca; Sallam, Ahmad H; Guo, Yu; Jayakodi, Murukarthick; Himmelbach, Axel; Fiebig, Anne; Simmons, Jamie; Bethke, Gerit; Lee, Yoonjung; Pacheco Arge, Luis Willian; Qiu, Yinjie; Badea, Ana; Baum, Michael; Belzile, François; Ben-David, Roi; Brueggeman, Robert; Case, Austin; Cattivelli, Luigi; Davis, Michael; Dockter, Christoph; Doležel, Jaroslav; Dreiseitl, Antonin; Gavin, Ryan; Glick, Lior; Greiner, Stephan; Hamilton, Ruth; Hayes, Patrick M; Heisel, Scott; Henson, Cynthia; Kilian, Benjamin; Komatsuda, Takao; Li, Chengdao; Liu, Cheng; Mahalingam, Ramamurthy; Maruschewski, Maren; Matny, Oadi; Maurer, Andreas; Mayer, Klaus F X; Mayrose, Itay; Moscou, Matthew; Muehlbauer, Gary J; Oono, Youko; Ordon, Frank; Özkan, Hakan; Pecinka, Ales; Perovic, Dragan; Pillen, Klaus; Pourkheirandish, Mohammad; Russell, Joanne; Šafář, Jan; Salvi, Silvio; Sanchez-Garcia, Miguel; Sato, Kazuhiro; Schmutzer, Thomas; Scholz, Uwe; Scott, Jeness; Singh Brar, Gurcharn; Smith, Kevin P; Sorrells, Mark E; Spannagl, Manuel; Stein, Nils; Tondelli, Alessandro; Tuberosa, Roberto; Tucker, James; Turkington, Thomas; Valkoun, Jan; Verma, Ramesh Pal Singh; Vinje, Marcus A; von Korff, Maria; Walling, Jason G; Waugh, Robbie; Wise, Roger P; Wulff, Brande B H; Yang, Shengming; Zhang, Guoping; Morrell, Peter L; Mascher, Martin; Steffenson, Brian J

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

剪接因子SF1的杂合致病变异会导致多种神经发育障碍。

Bou-Rouphael, Johnny; Cospain, Auriane; Courtin, Thomas; Keren, Boris; Marie, Corentine; Lesieur-Sebellin, Marion; Heron, Delphine; de Sainte Agathe, Jean-Madeleine; Heide, Solveig; Lejeune, Elodie; Quelin, Chloe; Lecoquierre, François; Nizon, Mathilde; Isidor, Bertrand; Besnard, Thomas; Cogne, Benjamin; Latypova, Xenia; Levy, Jonathan; Joset, Pascal; Steindl, Katharina; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Thomas, Mary Ann; Abubakar, Amina; Lynch, Sally Ann; Müller, Amelie J; Haack, Tobias B; Zenker, Martin; Parker, Michael; Clossick, Emma; Spiller, Michael; Crookes, Renarta; Holder-Espinasse, Muriel; Bayat, Allan; Møller, Rikke S; Mieszczanek, Tomasz Stanislaw; de la Grange, Pierre; Buratti, Julien; Marijon, Pierre; Ataf, Sabir; Gavin, Ryan; Parras, Carlos; Hassan, Bassem A; Mignot, Cyril; El Khattabi, Laïla

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

ZSCAN10 缺陷会导致一种神经发育障碍,其特征是耳面部畸形。

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sébastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

一项全国基因组测序计划中,33924个罕见病家庭的倒位效应研究

Alistair T Pagnamenta ,Jing Yu ,Susan Walker ,Alexandra J Noble ,Jenny Lord ,Prasun Dutta ,Mona Hashim ,Carme Camps ,Hannah Green ,Smrithi Devaiah ,Lina Nashef ,Jason Parr ,Carl Fratter ,Rana Ibnouf Hussein ,Sarah J Lindsay ,Fiona Lalloo ,Benito Banos-Pinero ,David Evans ,Lucy Mallin ,Adrian Waite ,Julie Evans ,Andrew Newman ,Zoe Allen ,Cristina Perez-Becerril ,Gavin Ryan ,Rachel Hart ,John Taylor ,Tina Bedenham ,Emma Clement ,Ed Blair ,Eleanor Hay ,Francesca Forzano ,Jenny Higgs ,Natalie Canham ,Anirban Majumdar ,Meriel McEntagart ,Nayana Lahiri ,Helen Stewart ,Sarah Smithson ,Eduardo Calpena ,Adam Jackson ,Siddharth Banka ,Hannah Titheradge ,Ruth McGowan ,Julia Rankin ,Charles Shaw-Smith ,D Gareth Evans ,George J Burghel ,Miriam J Smith ,Emily Anderson ,Rajesh Madhu ,Helen Firth ,Sian Ellard ,Paul Brennan ,Claire Anderson ,Doug Taupin ,Mark T Rogers ,Jackie A Cook ,Miranda Durkie ,James E East ,Darren Fowler ,Louise Wilson ,Rebecca Igbokwe ,Alice Gardham ,Ian Tomlinson ,Diana Baralle ,Holm H Uhlig ,Jenny C Taylor

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

TSPEAR 相关常染色体隐性外胚层发育不良 14 的临床、遗传、流行病学、进化和功能描述

Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, Kate E Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou; Genomics England R

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

核糖体生物合成因子基因 LTV1 的突变与 LIPHAK 综合征有关,这是一种新型皮肤异色症样疾病

Ji Hoon Han, Gavin Ryan, Alyson Guy, Lu Liu, Mathieu Quinodoz, Ingrid Helbling, Joey E Lai-Cheong; Genomics England Research Consortium; Julian Barwell, Marc Folcher, John A McGrath, Celia Moss, Carlo Rivolta

Intra-articular dislocation of the patella

髌骨关节内脱位

McHugh, Gavin; Ryan, Ed; Cleary, May; Kenny, Paddy; O'Flanagan, Shea; Keogh, Peter

Glycolytic and non-glycolytic functions of Mycobacterium tuberculosis fructose-1,6-bisphosphate aldolase, an essential enzyme produced by replicating and non-replicating bacilli

结核分枝杆菌果糖-1,6-二磷酸醛缩酶的糖酵解和非糖酵解功能,果糖-1,6-二磷酸醛缩酶是复制和非复制杆菌产生的必需酶

Maria de la Paz Santangelo, Petra M Gest, Marcelo E Guerin, Mathieu Coinçon, Ha Pham, Gavin Ryan, Susan E Puckett, John S Spencer, Mercedes Gonzalez-Juarrero, Racha Daher, Anne J Lenaerts, Dirk Schnappinger, Michel Therisod, Sabine Ehrt, Jurgen Sygusch, Mary Jackson