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

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.

在多种遗传性视网膜疾病的小鼠模型中,自噬破坏和线粒体应激先于感光细胞坏死

Newton Fay, Halachev Mihail, Nguyen Linda, McKie Lisa, Mill Pleasantine, Megaw Roly

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

对来自奥克尼和设得兰群岛创始人群的 4,198 名苏格兰参与者进行了可操作的基因变异分析,并实施了结果反馈机制

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Johnston Kiera, Drake Camilla, Halachev Mihail, Cowan Emma, Snadden Lesley, Dean John, Zheng Sean L, Thami Prisca K, Ware James S, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome

对患有科内莉亚·德·兰格综合征的“突变阴性”个体进行全基因组测序

Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L; D'Souza, Elston N; Barnett, Christopher; Wilkie, Andrew O M; Barnicoat, Angela; Patel, Chirag V; Sukarova-Angelovska, Elena; Girisha, Katta M; Firth, Helen V; Prescott, Katrina; Wilson, Louise C; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T; Lam, Wayne K; Sisodiya, Sanjay M; Green, Andrew J; Poke, Gemma; Whiffin, Nicola; FitzPatrick, David R; Meynert, Alison

Combined (68)Ga-PSMA PET/CT and mpMRI Findings Improve Tumor Localization and Biopsy Guidance in the Initial Diagnosis of Prostate Cancer

联合应用 (68)Ga-PSMA PET/CT 和 mpMRI 检查结果可提高前列腺癌初步诊断中的肿瘤定位和活检指导准确性

Gramatikov, Yavor; Nikolova, Petia; Ilcheva, Mihaela; Yotovski, Valentin; Halachev, Nikolay; Hadzhiyska, Valeria

Regionally enriched rare deleterious exonic variants in the UK and Ireland

英国和爱尔兰区域性富集的罕见有害外显子变异

Halachev, Mihail; Gountouna, Viktoria-Eleni; Meynert, Alison; Tzoneva, Gannie; Shuldiner, Alan R; Semple, Colin A; Wilson, James F

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

短读长全基因组测序可识别出大多数先前无法解释的无虹膜症患者的致病变异。

Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E; Bitoun, Pierre; Kirk, Edwin P; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; FitzPatrick, David R; Meynert, Alison

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

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

在经过严格筛选的X连锁智力障碍患者队列中,鉴定并构建可能致病的顺式调控变异的功能模型

Bengani, Hemant; Grozeva, Detelina; Moyon, Lambert; Bhatia, Shipra; Louros, Susana R; Hope, Jilly; Jackson, Adam; Prendergast, James G; Owen, Liusaidh J; Naville, Magali; Rainger, Jacqueline; Grimes, Graeme; Halachev, Mihail; Murphy, Laura C; Spasic-Boskovic, Olivera; van Heyningen, Veronica; Kind, Peter; Abbott, Catherine M; Osterweil, Emily; Raymond, F Lucy; Roest Crollius, Hugues; FitzPatrick, David R

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

在定量表型数据中发现具有诊断价值的模式

Aitken, Stuart; Firth, Helen V; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J; Lees, Melissa M; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Németh, Andrea H; Scott, Richard H; Wright, Caroline F; Marsh, Joseph A; Hurles, Matthew E; FitzPatrick, David R

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