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

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

TOP3A 的病理变异导致线粒体和核基因组稳定性明显紊乱

Direnis Erdinc #, Alejandro Rodríguez-Luis #, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous; Genomics England Research Consortium; Joanna Poulton, Hector Garcia-Moreno, Paola Giunti, Carlo

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies

靶向纳米孔测序能够完整表征最初使用基于外显子的短读测序策略发现的结构缺失

Benjamin McClinton, Laura A Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A Poulter, Claire E L Smith, Manir Ali, Christopher M Watson, Chris F Inglehearn, Carmel Toomes

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

DNAAF1 将心脏侧化与 AAA+ ATPase RUVBL1 和纤毛内鞭毛运输联系起来

Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Ed

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

CCDC151 突变通过破坏外动力蛋白臂对接复合物的形成,导致原发性纤毛运动障碍

Rim Hjeij, Alexandros Onoufriadis, Christopher M Watson, Christopher E Slagle, Nikolai T Klena, Gerard W Dougherty, Małgorzata Kurkowiak, Niki T Loges, Christine P Diggle, Nicholas F C Morante, George C Gabriel, Kristi L Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June Kehlet Ma

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface

利用溶液捕获富集和新型变异过滤界面进行稳健的诊断基因检测

Christopher M Watson ,Laura A Crinnion, Joanne E Morgan, Sally M Harrison, Christine P Diggle, Julian Adlard, Helen A Lindsay, Nick Camm, Ruth Charlton, Eamonn Sheridan, David T Bonthron, Graham R Taylor, Ian M Carr

Prognosis in patients achieving ≥10 METS on exercise stress testing: was SPECT imaging useful?

运动负荷试验中达到 ≥10 METs 的患者的预后:SPECT 成像有用吗?

Bourque, Jamieson M; Charlton, George T; Holland, Benjamin H; Belyea, Christopher M; Watson, Denny D; Beller, George A