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

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

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

Mutational landscape of a chemically-induced mouse model of liver cancer

化学诱导小鼠肝癌模型的突变图谱

Connor, Frances; Rayner, Tim F; Aitken, Sarah J; Feig, Christine; Lukk, Margus; Santoyo-Lopez, Javier; Odom, Duncan T

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

DNA聚合酶ε缺乏症导致IMAGe综合征伴有不同的免疫缺陷

Logan, Clare V; Murray, Jennie E; Parry, David A; Robertson, Andrea; Bellelli, Roberto; Tarnauskaitė, Žygimantė; Challis, Rachel; Cleal, Louise; Borel, Valerie; Fluteau, Adeline; Santoyo-Lopez, Javier; Aitman, Tim; Barroso, Inês; Basel, Donald; Bicknell, Louise S; Goel, Himanshu; Hu, Hao; Huff, Chad; Hutchison, Michele; Joyce, Caroline; Knox, Rachel; Lacroix, Amy E; Langlois, Sylvie; McCandless, Shawn; McCarrier, Julie; Metcalfe, Kay A; Morrissey, Rose; Murphy, Nuala; Netchine, Irène; O'Connell, Susan M; Olney, Ann Haskins; Paria, Nandina; Rosenfeld, Jill A; Sherlock, Mark; Syverson, Erin; White, Perrin C; Wise, Carol; Yu, Yao; Zacharin, Margaret; Banerjee, Indraneel; Reijns, Martin; Bober, Michael B; Semple, Robert K; Boulton, Simon J; Rios, Jonathan J; Jackson, Andrew P

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

poRe: an R package for the visualization and analysis of nanopore sequencing data

poRe:一个用于纳米孔测序数据可视化和分析的 R 包

Watson, Mick; Thomson, Marian; Risse, Judith; Talbot, Richard; Santoyo-Lopez, Javier; Gharbi, Karim; Blaxter, Mark

Initial genomics of the human nucleolus.

人类核仁的初步基因组学研究

Németh Attila, Conesa Ana, Santoyo-Lopez Javier, Medina Ignacio, Montaner David, Péterfia Bálint, Solovei Irina, Cremer Thomas, Dopazo Joaquin, Längst Gernot

Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project

推广生物和生物医学调查的统一最低报告准则:MIBBI 项目

Taylor, Chris F; Field, Dawn; Sansone, Susanna-Assunta; Aerts, Jan; Apweiler, Rolf; Ashburner, Michael; Ball, Catherine A; Binz, Pierre-Alain; Bogue, Molly; Booth, Tim; Brazma, Alvis; Brinkman, Ryan R; Michael Clark, Adam; Deutsch, Eric W; Fiehn, Oliver; Fostel, Jennifer; Ghazal, Peter; Gibson, Frank; Gray, Tanya; Grimes, Graeme; Hancock, John M; Hardy, Nigel W; Hermjakob, Henning; Julian, Randall K Jr; Kane, Matthew; Kettner, Carsten; Kinsinger, Christopher; Kolker, Eugene; Kuiper, Martin; Le Novère, Nicolas; Leebens-Mack, Jim; Lewis, Suzanna E; Lord, Phillip; Mallon, Ann-Marie; Marthandan, Nishanth; Masuya, Hiroshi; McNally, Ruth; Mehrle, Alexander; Morrison, Norman; Orchard, Sandra; Quackenbush, John; Reecy, James M; Robertson, Donald G; Rocca-Serra, Philippe; Rodriguez, Henry; Rosenfelder, Heiko; Santoyo-Lopez, Javier; Scheuermann, Richard H; Schober, Daniel; Smith, Barry; Snape, Jason; Stoeckert, Christian J Jr; Tipton, Keith; Sterk, Peter; Untergasser, Andreas; Vandesompele, Jo; Wiemann, Stefan