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

The E3-ome gene-centric compendium reveals the human E3 ligase landscape.

以 E3 连接酶组为中心的基因汇编揭示了人类 E3 连接酶的全貌。

Chua Ngee Kiat, González-Robles Tania J, Reddington Cameron J, Dudley-Fraser Jane, Birkinshaw Richard W, Han Jiru, Solano Ashleigh, Wong Soon Wei, Kochańczyk Tomasz, Peter Joshua J, Nakasone Mark A, Aust Florian, Munro Jacob, Tong Yeh Huei, Iskander Julie, Abeysekera Waruni, Garnham Alex, Huckstep Hannah, Ritchie Matthew E, Wertz Ingrid, Hymowitz Sarah, Kumar Sharad, Conaway Ron C, Privé Gilbert G, Bullock Alex N, Babon Jeffrey J, Klevit Rachel E, Lorenz Sonja, Ciulli Alessio, Fischer Eric S, Thomä Nicolas H, Nowak Radosław P, Schulman Brenda A, Rapé Michael, Rittinger Katrin, Pagan Julia K, Bahlo Melanie, Mackay Joel P, Mace Peter D, Lima Christopher D, Hay Ronald T, Komander David, Lechtenberg Bernhard C, Joazeiro Claudio A P, Pagano Michele, Hofmann Kay, Feltham Rebecca

Epilepsy concordance in monozygotic twins: the role of common genetic variants

单卵双胞胎癫痫一致性:常见遗传变异的作用

Dang, Yew Li; Oliver, Karen L; Esnault, Kate; Bahlo, Melanie; Perucca, Piero; Berkovic, Samuel F

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

Deep Learning-Based Detection of Reticular Pseudodrusen in Age-Related Macular Degeneration

基于深度学习的年龄相关性黄斑变性中网状假性玻璃膜疣的检测

Kumar, Himeesh; Bagdasarova, Yelena; Song, Scott; Hickey, Doron G; Cohn, Amy C; Okada, Mali; Finger, Robert P; Terheyden, Jan H; Hogg, Ruth E; Gabrielle, Pierre-Henry; Arnould, Louis; Jannaud, Maxime; Hadoux, Xavier; van Wijngaarden, Peter; Abbott, Carla J; Hodgson, Lauren A B; Schwartz, Roy; Tufail, Adnan; Chew, Emily Y; Lee, Cecilia S; Fletcher, Erica L; Bahlo, Melanie; Ansell, Brendan R E; Pébay, Alice; Guymer, Robyn H; Lee, Aaron Y; Wu, Zhichao

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice

对导致亨廷顿病和弗里德赖希共济失调的三核苷酸重复序列进行碱基编辑,可以减少患者细胞和小鼠体内的体细胞重复序列扩增。

Zaneta Matuszek #,Mandana Arbab #,Maheswaran Kesavan,Alvin Hsu,Jennie C L Roy,Jing Zhao,Tian Yu,Ben Weisburd,Gregory A Newby,Neil J Doherty,Muzhou Wu,Shota Shibata,Ana Cristian,Y Allen Tao,Liam G Fearnley,Melanie Bahlo,Heidi L Rehm,Jun Xie,Guangping Gao,Ricardo Mouro Pinto,David R Liu

HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement

HTRA1/lncRNA HTRA1-AS1 在年龄相关性黄斑变性网状假性玻璃膜疣的遗传风险中占主导地位,且不涉及补体系统。

Farashi, Samaneh; Abbott, Carla J; Ansell, Brendan R E; Wu, Zhichao; Altay, Lebriz; Arnon, Ella; Arnould, Louis; Bagdasarova, Yelena; Balaskas, Konstantinos; Chen, Fred K; Chew, Emily; Chowers, Itay; Clarke, Steven; Cukras, Catherine; Delcourt, Cécile; Delyfer, Marie-Noëlle; den Hollander, Anneke I; Fauser, Sascha; Finger, Robert P; Gabrielle, Pierre-Henry; Han, Jiru; Hodgson, Lauren A B; Hogg, Ruth; Holz, Frank G; Hoyng, Carel; Kumar, Himeesh; Lad, Eleonora M; Lee, Aaron; Luhmann, Ulrich F O; Mauschitz, Matthias M; McKnight, Amy J; McLenachan, Samuel; Mishra, Aniket; Moghul, Ismail; Orozco, Luz D; Sampson, Danuta M; Scott, Liam W; Sitnilska, Vasilena; Song, Scott; Stockwell, Amy; Swaroop, Anand; Terheyden, Jan H; Tiosano, Liran; Tufail, Adnan; Yaspan, Brian L; Pébay, Alice; Fletcher, Erica L; Guymer, Robyn H; Bahlo, Melanie

Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts

在帕金森病和路易体痴呆患者群体中鉴定出扩增和中断的ATXN2重复序列

Wang, Longfei; Milton, Michael; Fearnley, Liam G; Bhalala, Oneil G; Bahlo, Melanie; Rafehi, Haloom

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features

癫痫精神病:揭示表型和基因型特征

Rayner, Genevieve; Honybun, Eliza; Bahlo, Melanie; Oliver, Karen L; Scheffer, Ingrid E

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

一项前瞻性试验比较了可编程靶向长读长测序和短读长基因组测序在小脑共济失调基因诊断中的应用。

Rafehi, Haloom; Fearnley, Liam G; Read, Justin; Snell, Penny; Davies, Kayli C; Scott, Liam; Gillies, Greta; Thompson, Genevieve C; Field, Tess A; Eldo, Aleena; Bodek, Simon; Butler, Ernest; Chen, Luke; Drago, John; Goel, Himanshu; Hackett, Anna; Halmagyi, G Michael; Hannaford, Andrew; Kotschet, Katya; Kumar, Kishore R; Kumble, Smitha; Lee-Archer, Matthew; Malhotra, Abhishek; Paine, Mark; Poon, Michael; Pope, Kate; Reardon, Katrina; Ring, Steven; Ronan, Anne; Silsby, Matthew; Smyth, Renee; Stutterd, Chloe; Wallis, Mathew; Waterston, John; Wellings, Thomas; West, Kirsty; Wools, Christine; Wu, Kathy H C; Szmulewicz, David J; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis

通过英国生物银行候选基因搜索和人体成像分析鉴定新的椎骨发育因子

Sun, Zhuopin; Han, Jiru; Fearnley, Liam G; McGlinn, Edwina; Bahlo, Melanie