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

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

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

Inherited Thoracic Aortic Disease: New Insights and Translational Targets

遗传性胸主动脉疾病:新的见解和转化靶点

Fletcher, Alexander J; Syed, Maaz B J; Aitman, Timothy J; Newby, David E; Walker, Niki L

Absolute measurement of the tissue origins of cell-free DNA in the healthy state and following paracetamol overdose

健康状态和扑热息痛过量后,对游离DNA的组织来源进行绝对测量

Laurent, Danny; Semple, Fiona; Starkey Lewis, Philip J; Rose, Elaine; Black, Holly A; Coe, Jennifer; Forbes, Stuart J; Arends, Mark J; Dear, James W; Aitman, Timothy J

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

苏格兰一个与世隔绝的人群中超罕见变异负荷增加,影响外显子和调控区域。

Halachev, Mihail; Meynert, Alison; Taylor, Martin S; Vitart, Veronique; Kerr, Shona M; Klaric, Lucija; Aitman, Timothy J; Haley, Chris S; Prendergast, James G; Pugh, Carys; Hume, David A; Harris, Sarah E; Liewald, David C; Deary, Ian J; Semple, Colin A; Wilson, James F

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

一种显性遗传的5'UTR变异导致BRCA1甲基化相关的沉默,从而引发乳腺癌和卵巢癌。

Evans, D Gareth R; van Veen, Elke M; Byers, Helen J; Wallace, Andrew J; Ellingford, Jamie M; Beaman, Glenda; Santoyo-Lopez, Javier; Aitman, Timothy J; Eccles, Diana M; Lalloo, Fiona I; Smith, Miriam J; Newman, William G