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

Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland

苏格兰设得兰群岛和奥克尼群岛药物基因组变异的特征分析

Twesigomwe, David; Aitman, Timothy J; Wilson, James F

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

纤毛病患者的变异揭示了TUBB4B在轴丝微管中的细胞器特异性功能

Daniel O Dodd # ,Sabrina Mechaussier # ,Patricia L Yeyati ,Fraser McPhie ,Jacob R Anderson ,Chen Jing Khoo ,Amelia Shoemark ,Deepesh K Gupta ,Thomas Attard ,Maimoona A Zariwala ,Marie Legendre ,Diana Bracht ,Julia Wallmeier ,Miao Gui ,Mahmoud R Fassad ,David A Parry ,Peter A Tennant ,Alison Meynert ,Gabrielle Wheway ,Lucas Fares-Taie ,Holly A Black ,Rana Mitri-Frangieh ,Catherine Faucon ,Josseline Kaplan ,Mitali Patel ,Lisa McKie ,Roly Megaw ,Christos Gatsogiannis ,Mai A Mohamed ,Stuart Aitken ,Philippe Gautier ,Finn R Reinholt ,Robert A Hirst ,Chris O'Callaghan ,Ketil Heimdal ,Mathieu Bottier ,Estelle Escudier ,Suzanne Crowley ,Maria Descartes ,Ethylin W Jabs ,Priti Kenia ,Jeanne Amiel ,Giacomo Maria Bacci ,Claudia Calogero ,Viviana Palazzo ,Lucia Tiberi ,Ulrike Blümlein ,Andrew Rogers ,Jennifer A Wambach ,Daniel J Wegner ,Anne B Fulton ,Margaret Kenna ,Margaret Rosenfeld ,Ingrid A Holm ,Alan Quigley ,Emma A Hall ,Laura C Murphy ,Diane M Cassidy ,Alex von Kriegsheim ,Laurent Pasquier ,Marlène S Murris ,James D Chalmers ,Claire Hogg ,Kenneth A Macleod ,Don S Urquhart ,Stefan Unger ,Timothy J Aitman ,Serge Amselem ,Margaret W Leigh ,Michael R Knowles ,Heymut Omran ,Hannah M Mitchison ,Alan Brown ,Joseph A Marsh ,Julie P I Welburn ,Shih-Chieh Ti ,Amjad Horani ,Jean-Michel Rozet ,Isabelle Perrault ,Pleasantine Mill

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

罕见变异分析在多民族人群中验证了已知的ALS基因,并将ANTXR2确定为PLS的候选基因。

Pottinger, Tess D; Motelow, Joshua E; Povysil, Gundula; Moreno, Cristiane A Martins; Ren, Zhong; Phatnani, Hemali; Aitman, Timothy J; Santoyo-Lopez, Javier; Mitsumoto, Hiroshi; Goldstein, David B; Harms, Matthew B

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

全基因组测序增强了原发性纤毛运动障碍的分子诊断

Black, Holly A; de Proce, Sophie Marion; Campos, Jose L; Meynert, Alison; Halachev, Mihail; Marsh, Joseph A; Hirst, Robert A; O'Callaghan, Chris; Shoemark, Amelia; Toddie-Moore, Daniel; Santoyo-Lopez, Javier; Murray, Jennie; Macleod, Kenneth; Urquhart, Don S; Unger, Stefan; Aitman, Timothy J; Mill, Pleasantine

Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland

苏格兰运动神经元疾病长期存活者的基因型-表型特征分析

Leighton, Danielle J; Ansari, Morad; Newton, Judith; Parry, David; Cleary, Elaine; Colville, Shuna; Stephenson, Laura; Larraz, Juan; Johnson, Micheala; Beswick, Emily; Wong, Michael; Gregory, Jenna; Carod Artal, Javier; Davenport, Richard; Duncan, Callum; Morrison, Ian; Smith, Colin; Swingler, Robert; Deary, Ian J; Porteous, Mary; Aitman, Timothy J; Chandran, Siddharthan; Gorrie, George H; Pal, Suvankar

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

在公共医疗体系中,利用基因组测序和基于基因组面板的分析方法检测罕见遗传疾病:对未来检测的启示

Hocking, Lynne J; Andrews, Claire; Armstrong, Christine; Ansari, Morad; Baty, David; Berg, Jonathan; Bradley, Therese; Clark, Caroline; Diamond, Austin; Doherty, Jill; Lampe, Anne; McGowan, Ruth; Moore, David J; O'Sullivan, Dawn; Purvis, Andrew; Santoyo-Lopez, Javier; Westwood, Paul; Abbott, Michael; Williams, Nicola; Aitman, Timothy J; Miedzybrodzka, Zosia

Students' and staffs' views and experiences of asymptomatic testing on a university campus during the COVID-19 pandemic in Scotland: a mixed methods study

苏格兰某大学校园内学生和教职工在新冠疫情期间对无症状检测的看法和体验:一项混合方法研究

Bauld, Linda; Street, Alice; Connelly, Roxanne; Bevan, Imogen; Morlet Corti, Yazmin; Baxter, Mats Stage; Stagg, Helen R; Christison, Sarah; Mulherin, Tamara; Sinclair, Lesley; Aitman, Tim

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

罕见变异分析在多民族人群中验证了已知的ALS基因,并将ANTXR2确定为PLS的候选基因。

Pottinger, Tess D; Motelow, Joshua E; Povysil, Gundula; Moreno, Cristiane A Martins; Ren, Zhong; Phatnani, Hemali; Aitman, Timothy J; Santoyo-Lopez, Javier; Mitsumoto, Hiroshi; Goldstein, David B; Harms, Matthew B

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

罕见变异分析在多民族人群中验证了已知的ALS基因,并将ANTXR2确定为PLS的候选基因。

Pottinger, Tess D; Motelow, Joshua E; Povysil, Gundula; Moreno, Cristiane A Martins; Ren, Zhong; Phatnani, Hemali; Aitman, Timothy J; Santoyo-Lopez, Javier; Mitsumoto, Hiroshi; Goldstein, David B; Harms, Matthew B

Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney

世界边缘的古老DNA:大陆移民与青铜时代奥克尼群岛新石器时代男性血统的延续

Dulias, Katharina; Foody, M George B; Justeau, Pierre; Silva, Marina; Martiniano, Rui; Oteo-García, Gonzalo; Fichera, Alessandro; Rodrigues, Simão; Gandini, Francesca; Meynert, Alison; Donnelly, Kevin; Aitman, Timothy J; Chamberlain, Andrew; Lelong, Olivia; Kozikowski, George; Powlesland, Dominic; Waddington, Clive; Mattiangeli, Valeria; Bradley, Daniel G; Bryk, Jaroslaw; Soares, Pedro; Wilson, James F; Wilson, Graeme; Moore, Hazel; Pala, Maria; Edwards, Ceiridwen J; Richards, Martin B