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

The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland

英国和爱尔兰遗传性血色素沉着症风险和诊断概况

Kerr, Shona M; Fletcher, Benjamin S; Tzoneva, Gannie; Shuldiner, Alan R; Gilbert, Edmund; Wilson, James F

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

Inherited chromosomally integrated human herpesvirus 6: regional variation in prevalence, association with angina, and identification of ancestral viral lineages in two large UK studies

遗传性染色体整合型人类疱疹病毒6:英国两项大型研究中流行率的区域差异、与心绞痛的关联以及祖先病毒谱系的鉴定

Wood, Michael L; Bell, Adam J; Young, Robin; Brownlie, Christopher; Orr, Nick; Campbell, Archie; Nichols, Jenna; Papageorgiou, Konstantinos; Lake, Annette; Suarez, Nicolas M; Smollett, Katherine; Jesudason, Natasha; Camiolo, Salvatore; Vattipally, Sreenu; Hughes, Joseph; Brown, Kirby; Hunter, Leah M; Shaw, Euan; Storrie, Skye; Stansilaus, Rithu Paul; Sweeney, Eillis; Zhu, Tingyi; Fawkes, Angie; Murphy, Lee; Tyne, William; Howard, Philip; Jones, Michael E; Tomczyk, Katarzyna; Richmond, Anne; Wilson, James F; Clark, Duncan A; Delles, Christian; Royle, Nicola; Kerr, Shona M; Filipe, Ana da Silva; Davison, Andrew J; McConnachie, Alex; Swerdlow, Anthony J; Hayward, Caroline; Jarrett, Ruth F

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

在苏格兰的奥克尼群岛和设得兰群岛,两个创始变异体占致病性 BRCA 等位基因的 90% 以上

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Cowan Emma, Snadden Lesley, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

Participant engagement and involvement in longitudinal cohort studies: qualitative insights from a selection of pregnancy and birth, twin, and family-based population cohort studies

参与者在纵向队列研究中的参与度和投入度:来自一系列妊娠和分娩、双胞胎和家庭人群队列研究的定性见解

Budin-Ljøsne, Isabelle; Fredheim, Nanna A G; Jevne, Charlotte Alison; Kleven, Bojana Milanovic; Charles, Marie Aline; Felix, Janine F; Flaig, Robin; García, María Paz; Havdahl, Alexandra; Islam, Shahid; Kerr, Shona M; Meder, Inger Kristine; Molloy, Lynn; Morton, Susan M B; Pizzi, Costanza; Rahman, Aamnah; Willemsen, Gonneke; Wood, Diane; Harris, Jennifer R

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

多种族全基因组关联分析提高了影响肺功能和慢性阻塞性肺疾病风险的基因和通路的分辨率。

Shrine, Nick; Izquierdo, Abril G; Chen, Jing; Packer, Richard; Hall, Robert J; Guyatt, Anna L; Batini, Chiara; Thompson, Rebecca J; Pavuluri, Chandan; Malik, Vidhi; Hobbs, Brian D; Moll, Matthew; Kim, Wonji; Tal-Singer, Ruth; Bakke, Per; Fawcett, Katherine A; John, Catherine; Coley, Kayesha; Piga, Noemi Nicole; Pozarickij, Alfred; Lin, Kuang; Millwood, Iona Y; Chen, Zhengming; Li, Liming; Wijnant, Sara R A; Lahousse, Lies; Brusselle, Guy; Uitterlinden, Andre G; Manichaikul, Ani; Oelsner, Elizabeth C; Rich, Stephen S; Barr, R Graham; Kerr, Shona M; Vitart, Veronique; Brown, Michael R; Wielscher, Matthias; Imboden, Medea; Jeong, Ayoung; Bartz, Traci M; Gharib, Sina A; Flexeder, Claudia; Karrasch, Stefan; Gieger, Christian; Peters, Annette; Stubbe, Beate; Hu, Xiaowei; Ortega, Victor E; Meyers, Deborah A; Bleecker, Eugene R; Gabriel, Stacey B; Gupta, Namrata; Smith, Albert Vernon; Luan, Jian'an; Zhao, Jing-Hua; Hansen, Ailin F; Langhammer, Arnulf; Willer, Cristen; Bhatta, Laxmi; Porteous, David; Smith, Blair H; Campbell, Archie; Sofer, Tamar; Lee, Jiwon; Daviglus, Martha L; Yu, Bing; Lim, Elise; Xu, Hanfei; O'Connor, George T; Thareja, Gaurav; Albagha, Omar M E; Suhre, Karsten; Granell, Raquel; Faquih, Tariq O; Hiemstra, Pieter S; Slats, Annelies M; Mullin, Benjamin H; Hui, Jennie; James, Alan; Beilby, John; Patasova, Karina; Hysi, Pirro; Koskela, Jukka T; Wyss, Annah B; Jin, Jianping; Sikdar, Sinjini; Lee, Mikyeong; May-Wilson, Sebastian; Pirastu, Nicola; Kentistou, Katherine A; Joshi, Peter K; Timmers, Paul R H J; Williams, Alexander T; Free, Robert C; Wang, Xueyang; Morrison, John L; Gilliland, Frank D; Chen, Zhanghua; Wang, Carol A; Foong, Rachel E; Harris, Sarah E; Taylor, Adele; Redmond, Paul; Cook, James P; Mahajan, Anubha; Lind, Lars; Palviainen, Teemu; Lehtimäki, Terho; Raitakari, Olli T; Kaprio, Jaakko; Rantanen, Taina; Pietiläinen, Kirsi H; Cox, Simon R; Pennell, Craig E; Hall, Graham L; Gauderman, W James; Brightling, Chris; Wilson, James F; Vasankari, Tuula; Laitinen, Tarja; Salomaa, Veikko; Mook-Kanamori, Dennis O; Timpson, Nicholas J; Zeggini, Eleftheria; Dupuis, Josée; Hayward, Caroline; Brumpton, Ben; Langenberg, Claudia; Weiss, Stefan; Homuth, Georg; Schmidt, Carsten Oliver; Probst-Hensch, Nicole; Jarvelin, Marjo-Riitta; Morrison, Alanna C; Polasek, Ozren; Rudan, Igor; Lee, Joo-Hyeon; Sayers, Ian; Rawlins, Emma L; Dudbridge, Frank; Silverman, Edwin K; Strachan, David P; Walters, Robin G; Morris, Andrew P; London, Stephanie J; Cho, Michael H; Wain, Louise V; Hall, Ian P; Tobin, Martin D

Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

作者更正:多祖先全基因组关联分析提高了影响肺功能和慢性阻塞性肺疾病风险的基因和通路的分辨率。

Shrine, Nick; Izquierdo, Abril G; Chen, Jing; Packer, Richard; Hall, Robert J; Guyatt, Anna L; Batini, Chiara; Thompson, Rebecca J; Pavuluri, Chandan; Malik, Vidhi; Hobbs, Brian D; Moll, Matthew; Kim, Wonji; Tal-Singer, Ruth; Bakke, Per; Fawcett, Katherine A; John, Catherine; Coley, Kayesha; Piga, Noemi Nicole; Pozarickij, Alfred; Lin, Kuang; Millwood, Iona Y; Chen, Zhengming; Li, Liming; Wijnant, Sara R A; Lahousse, Lies; Brusselle, Guy; Uitterlinden, Andre G; Manichaikul, Ani; Oelsner, Elizabeth C; Rich, Stephen S; Barr, R Graham; Kerr, Shona M; Vitart, Veronique; Brown, Michael R; Wielscher, Matthias; Imboden, Medea; Jeong, Ayoung; Bartz, Traci M; Gharib, Sina A; Flexeder, Claudia; Karrasch, Stefan; Gieger, Christian; Peters, Annette; Stubbe, Beate; Hu, Xiaowei; Ortega, Victor E; Meyers, Deborah A; Bleecker, Eugene R; Gabriel, Stacey B; Gupta, Namrata; Smith, Albert Vernon; Luan, Jian'an; Zhao, Jing-Hua; Hansen, Ailin F; Langhammer, Arnulf; Willer, Cristen; Bhatta, Laxmi; Porteous, David; Smith, Blair H; Campbell, Archie; Sofer, Tamar; Lee, Jiwon; Daviglus, Martha L; Yu, Bing; Lim, Elise; Xu, Hanfei; O'Connor, George T; Thareja, Gaurav; Albagha, Omar M E; Suhre, Karsten; Granell, Raquel; Faquih, Tariq O; Hiemstra, Pieter S; Slats, Annelies M; Mullin, Benjamin H; Hui, Jennie; James, Alan; Beilby, John; Patasova, Karina; Hysi, Pirro; Koskela, Jukka T; Wyss, Annah B; Jin, Jianping; Sikdar, Sinjini; Lee, Mikyeong; May-Wilson, Sebastian; Pirastu, Nicola; Kentistou, Katherine A; Joshi, Peter K; Timmers, Paul R H J; Williams, Alexander T; Free, Robert C; Wang, Xueyang; Morrison, John L; Gilliland, Frank D; Chen, Zhanghua; Wang, Carol A; Foong, Rachel E; Harris, Sarah E; Taylor, Adele; Redmond, Paul; Cook, James P; Mahajan, Anubha; Lind, Lars; Palviainen, Teemu; Lehtimäki, Terho; Raitakari, Olli T; Kaprio, Jaakko; Rantanen, Taina; Pietiläinen, Kirsi H; Cox, Simon R; Pennell, Craig E; Hall, Graham L; Gauderman, W James; Brightling, Chris; Wilson, James F; Vasankari, Tuula; Laitinen, Tarja; Salomaa, Veikko; Mook-Kanamori, Dennis O; Timpson, Nicholas J; Zeggini, Eleftheria; Dupuis, Josée; Hayward, Caroline; Brumpton, Ben; Langenberg, Claudia; Weiss, Stefan; Homuth, Georg; Schmidt, Carsten Oliver; Probst-Hensch, Nicole; Jarvelin, Marjo-Riitta; Morrison, Alanna C; Polasek, Ozren; Rudan, Igor; Lee, Joo-Hyeon; Sayers, Ian; Rawlins, Emma L; Dudbridge, Frank; Silverman, Edwin K; Strachan, David P; Walters, Robin G; Morris, Andrew P; London, Stephanie J; Cho, Michael H; Wain, Louise V; Hall, Ian P; Tobin, Martin D

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

临床病例研究与人群队列研究相结合:在奥克尼群岛居民中发现 BRCA1 致病性创始变异

Kerr, Shona M; Cowan, Emma; Klaric, Lucija; Bell, Christine; O'Sullivan, Dawn; Buchanan, David; Grzymski, Joseph J; van Hout, Cristopher V; Tzoneva, Gannie; Shuldiner, Alan R; Wilson, James F; Miedzybrodzka, Zosia

A practical checklist for return of results from genomic research in the European context

欧洲背景下基因组研究结果反馈的实用清单

Vears, Danya F; Hallowell, Nina; Bentzen, Heidi Beate; Ellul, Bridget; Nøst, Therese Haugdahl; Kerasidou, Angeliki; Kerr, Shona M; Th Mayrhofer, Michaela; Mežinska, Signe; Ormondroyd, Elizabeth; Solberg, Berge; Sand, Birgitte Wirum; Budin-Ljøsne, Isabelle

VIKING II, a worldwide observational cohort of volunteers with northern isles ancestry

VIKING II,一项针对具有北方岛屿血统的全球志愿者的观察性队列研究

Kerr, Shona M; Edwards, Rachel; Buchanan, David; Dean, John; Miedzybrodzka, Zosia; Wilson, James F