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

Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development

单细胞 DNA 测序确定了儿童髓母细胞瘤发展中与风险相关的克隆复杂性和进化轨迹

Marina Danilenko, Masood Zaka, Claire Keeling, Stephen Crosier, Stephanie Lyman, Martina Finetti, Daniel Williamson, Rafiqul Hussain, Jonathan Coxhead, Peixun Zhou, Rebecca M Hill, Debbie Hicks, Vikki Rand, Abhijit Joshi, Edward C Schwalbe, Simon Bailey, Steven C Clifford

Medulloblastoma group 3 and 4 tumors comprise a clinically and biologically significant expression continuum reflecting human cerebellar development

髓母细胞瘤第3组和第4组肿瘤构成了一个具有临床和生物学意义的表达连续谱,反映了人类小脑的发育过程。

Daniel Williamson ,Edward C Schwalbe ,Debbie Hicks ,Kimberly A Aldinger ,Janet C Lindsey ,Stephen Crosier ,Stacey Richardson ,Jack Goddard ,Rebecca M Hill ,Jemma Castle ,Yura Grabovska ,James Hacking ,Barry Pizer ,Stephen B Wharton ,Thomas S Jacques ,Abhijit Joshi ,Simon Bailey ,Steven C Clifford

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

COL12A1 的隐性和显性突变导致人类和小鼠出现新的 EDS/肌病重叠综合征

Yaqun Zou, Daniela Zwolanek, Yayoi Izu, Shreya Gandhy, Gudrun Schreiber, Knut Brockmann, Marcella Devoto, Zuozhen Tian, Ying Hu, Guido Veit, Markus Meier, Jörg Stetefeld, Debbie Hicks, Volker Straub, Nicol C Voermans, David E Birk, Elisabeth R Barton, Manuel Koch, Carsten G Bönnemann

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

由于 ALG2 和 ALG14 突变导致的先天性肌无力综合征

Judith Cossins, Katsiaryna Belaya, Debbie Hicks, Mustafa A Salih, Sarah Finlayson, Nicola Carboni, Wei Wei Liu, Susan Maxwell, Katarzyna Zoltowska, Golara Torabi Farsani, Steven Laval, Mohammed Zain Seidhamed; WGS500 Consortium; Peter Donnelly, David Bentley, Simon J McGowan, Juliane Müller, Jacquel

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

Anoctamin 5 的创始突变是肢带型肌营养不良症的主要原因

Debbie Hicks #, Anna Sarkozy #, Nuria Muelas, Katrin Köehler, Angela Huebner, Gavin Hudson, Patrick F Chinnery, Rita Barresi, Michelle Eagle, Tuomo Polvikoski, Geraldine Bailey, James Miller, Aleksander Radunovic, Paul J Hughes, Richard Roberts, Sabine Krause, Maggie C Walter, Steven H Laval, Volker