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

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

AMPA 受体 GRIA3 离子传导孔中的点突变会导致睡眠模式严重紊乱以及智力障碍

Davies Benjamin, Brown Laurence A, Cais Ondrej, Watson Jake, Clayton Amber J, Chang Veronica T, Biggs Daniel, Preece Christopher, Hernandez-Pliego Polinka, Krohn Jon, Bhomra Amarjit, Twigg Stephen R F, Rimmer Andrew, Kanapin Alexander, Sen Arjune, Zaiwalla Zenobia, McVean Gil, Foster Russell, Donnelly Peter, Taylor Jenny C, Blair Edward, Nutt David, Aricescu A Radu, Greger Ingo H, Peirson Stuart N, Flint Jonathan, Martin Hilary C

Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome

利用新一代测序技术解析小鼠遗传性肾病综合征,发现Lamb2基因存在功能减弱突变,并构建了皮尔森综合征模型。

Bull, Katherine R; Mason, Thomas; Rimmer, Andrew J; Crockford, Tanya L; Silver, Karlee L; Bouriez-Jones, Tiphaine; Hough, Tertius A; Chaudhry, Shirine; Roberts, Ian S D; Goodnow, Christopher C; Cornall, Richard J

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

严重早发性癫痫的临床全基因组测序揭示了新的基因并改进了分子诊断

Martin, Hilary C; Kim, Grace E; Pagnamenta, Alistair T; Murakami, Yoshiko; Carvill, Gemma L; Meyer, Esther; Copley, Richard R; Rimmer, Andrew; Barcia, Giulia; Fleming, Matthew R; Kronengold, Jack; Brown, Maile R; Hudspith, Karl A; Broxholme, John; Kanapin, Alexander; Cazier, Jean-Baptiste; Kinoshita, Taroh; Nabbout, Rima; Bentley, David; McVean, Gil; Heavin, Sinéad; Zaiwalla, Zenobia; McShane, Tony; Mefford, Heather C; Shears, Deborah; Stewart, Helen; Kurian, Manju A; Scheffer, Ingrid E; Blair, Edward; Donnelly, Peter; Kaczmarek, Leonard K; Taylor, Jenny C

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

AP2S1基因突变导致家族性低钙尿性高钙血症3型

Nesbit, M Andrew; Hannan, Fadil M; Howles, Sarah A; Reed, Anita A C; Cranston, Treena; Thakker, Clare E; Gregory, Lorna; Rimmer, Andrew J; Rust, Nigel; Graham, Una; Morrison, Patrick J; Hunter, Steven J; Whyte, Michael P; McVean, Gil; Buck, David; Thakker, Rajesh V

Whole-exome sequencing studies of nonfunctioning pituitary adenomas

无功能性垂体腺瘤的全外显子组测序研究

Newey, Paul J; Nesbit, M Andrew; Rimmer, Andrew J; Head, Rosie A; Gorvin, Caroline M; Attar, Moustafa; Gregory, Lorna; Wass, John A H; Buck, David; Karavitaki, Niki; Grossman, Ashley B; McVean, Gilean; Ansorge, Olaf; Thakker, Rajesh V

Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

利用全基因组测序和同源性鉴定技术突破正向遗传学瓶颈,分离致病突变

Bull, Katherine R; Rimmer, Andrew J; Siggs, Owen M; Miosge, Lisa A; Roots, Carla M; Enders, Anselm; Bertram, Edward M; Crockford, Tanya L; Whittle, Belinda; Potter, Paul K; Simon, Michelle M; Mallon, Ann-Marie; Brown, Steve D M; Beutler, Bruce; Goodnow, Christopher C; Lunter, Gerton; Cornall, Richard J

Evolutionary dynamics of Staphylococcus aureus during progression from carriage to disease

金黄色葡萄球菌从携带到致病过程中的进化动态

Young, Bernadette C; Golubchik, Tanya; Batty, Elizabeth M; Fung, Rowena; Larner-Svensson, Hanna; Votintseva, Antonina A; Miller, Ruth R; Godwin, Heather; Knox, Kyle; Everitt, Richard G; Iqbal, Zamin; Rimmer, Andrew J; Cule, Madeleine; Ip, Camilla L C; Didelot, Xavier; Harding, Rosalind M; Donnelly, Peter; Peto, Tim E; Crook, Derrick W; Bowden, Rory; Wilson, Daniel J

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas

非遗传性(散发性)甲状旁腺腺瘤的全外显子组测序研究

Newey, Paul J; Nesbit, M Andrew; Rimmer, Andrew J; Attar, Moustafa; Head, Rosie T; Christie, Paul T; Gorvin, Caroline M; Stechman, Michael; Gregory, Lorna; Mihai, Radu; Sadler, Greg; McVean, Gil; Buck, David; Thakker, Rajesh V

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

SPTBN2基因的隐性突变与β-III谱蛋白在认知和运动发育中均有关联。

Lise, Stefano; Clarkson, Yvonne; Perkins, Emma; Kwasniewska, Alexandra; Sadighi Akha, Elham; Schnekenberg, Ricardo Parolin; Suminaite, Daumante; Hope, Jilly; Baker, Ian; Gregory, Lorna; Green, Angie; Allan, Chris; Lamble, Sarah; Jayawant, Sandeep; Quaghebeur, Gerardine; Cader, M Zameel; Hughes, Sarah; Armstrong, Richard J E; Kanapin, Alexander; Rimmer, Andrew; Lunter, Gerton; Mathieson, Iain; Cazier, Jean-Baptiste; Buck, David; Taylor, Jenny C; Bentley, David; McVean, Gilean; Donnelly, Peter; Knight, Samantha J L; Jackson, Mandy; Ragoussis, Jiannis; Németh, Andrea H