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

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

对 44,028 名具有高纯合性的英国南亚裔人群进行外显子组测序和分析

Kim, Hye In; DeBoever, Christopher; Walter, Klaudia; Kalantzis, Georgios; Li, Chen; Mozaffari, Sahar V; Kundu, Kousik; Jacobs, Benjamin M; Mohammadi-Shemirani, Pedrum; Musolf, Anthony M; Davitte, Jonathan M; Aksit, Melis A; Gafton, Joseph; Catalano, Katrina A; Dawed, Adem Y; Graham, Robert R; Guo, Bin; Gupta, Namrata; Heng, Teng Hiang; Hunt, Karen A; Iyer, Vivek; Langenberg, Claudia; Lassen, Frederik H; MacArthur, Daniel G; Maher, Eamonn R; Maroteau, Cyrielle; Newman, William G; O'Rahilly, Stephen; Palmer, Duncan S; Popov, Iaroslav; Siddiqui, Moneeza K; Simpson, Michael A; Spreckley, Marie; Wright, John; Del Angel, Guillermo; Petrovski, Slavé; Holzinger, Emily R; Maranville, Joseph C; Addis, Laura; Turner, Richard M; Estrada, Karol; Longerich, Simone; Howson, Joanna M M; Jamshidi, Yalda; Fauman, Eric B; Miller, Melissa R; Diogo, Dorothée; Trembath, Richard C; Finer, Sarah; Martin, Hilary C; van Heel, David A

Polygenic and developmental profiles of autism differ by age at diagnosis

自闭症的多基因和发育特征因诊断年龄而异。

Zhang, Xinhe; Grove, Jakob; Gu, Yuanjun; Buus, Cornelia K; Nielsen, Lea K; Neufeld, Sharon A S; Koko, Mahmoud; Malawsky, Daniel S; Wade, Emma M; Verhoef, Ellen; Gui, Anna; Hegemann, Laura; Geschwind, Daniel H; Wray, Naomi R; Havdahl, Alexandra; Ronald, Angelica; St Pourcain, Beate; Robinson, Elise B; Bourgeron, Thomas; Baron-Cohen, Simon; Børglum, Anders D; Martin, Hilary C; Warrier, Varun

Somatic mutation and selection at population scale

群体尺度上的体细胞突变和选择

Lawson, Andrew R J; Abascal, Federico; Nicola, Pantelis A; Lensing, Stefanie V; Roberts, Amy L; Kalantzis, Georgios; Baez-Ortega, Adrian; Brzozowska, Natalia; El-Sayed Moustafa, Julia S; Vaitkute, Dovile; Jakupovic, Belma; Nessa, Ayrun; Wadge, Samuel; Österdahl, Marc F; Paterson, Anna L; Rassl, Doris M; Alcantara, Raul E; O'Neill, Laura; Widaa, Sara; Austin-Guest, Siobhan; Neville, Matthew D C; Przybilla, Moritz J; Cheng, Wei; Morra, Maria; Sykes, Lucy; Mayho, Matthew; Müller-Sienerth, Nicole; Williams, Nicholas; Alexander, Diana; Harvey, Luke M R; Clarke, Thomas; Byrne, Alex; Blundell, Jamie R; Young, Matthew D; Mahbubani, Krishnaa T A; Saeb-Parsy, Kourosh; Martin, Hilary C; Stratton, Michael R; Campbell, Peter J; Rahbari, Raheleh; Small, Kerrin S; Martincorena, Iñigo

Socio-economic status is a social construct with heritable components and genetic consequences

社会经济地位是一种社会建构,具有遗传成分和基因后果。

Abdellaoui, Abdel; Martin, Hilary C; Kolk, Martin; Rutherford, Adam; Muthukrishna, Michael; Tropf, Felix C; Mills, Melinda C; Zietsch, Brendan P; Verweij, Karin J H; Visscher, Peter M

The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra

祖先、遗传和环境因素对种系新生突变率和突变谱的影响

Garcia-Salinas, O Isaac; Hwang, Seongwon; Huang, Qin Qin; Sanghvi, Rashesh; Malawsky, Daniel S; Kaplanis, Joanna; Neville, Matthew D C; Day, Felix R; Rahbari, Raheleh; Scally, Aylwyn; Martin, Hilary C

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders

研究早产与遗传变异在罕见发育障碍中的相互作用

Wootton, Olivia; Campbell, Patrick; Richardson, Sarah; Lindsay, Sarah J; Huang, Qin Qin; Delage, Erwan; Amanat, Sana; Wong, Hilary S; Firth, Helen V; Hurles, Matthew E; Simpson, Michael A; Radford, Elizabeth J; Martin, Hilary C

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity

在44000名具有高度纯合性的英国巴基斯坦裔和孟加拉裔人群中,常见疾病普遍存在隐性遗传效应。

Heng, Teng Hiang; Walter, Klaudia; Huang, Qin Qin; Karjalainen, Juha; Daly, Mark J; Heyne, Henrike O; Malawsky, Daniel S; Kalantzis, Georgios; Finer, Sarah; van Heel, David A; Martin, Hilary C

Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores

利用多基因风险评分,调查基于人群的英国巴基斯坦裔和孟加拉裔队列中1型糖尿病的误诊情况

Liu, Timing; Sankareswaran, Alagu; Paterson, Gordon; Fraser, Diane P; Hodgson, Sam; Huang, Qin Qin; Heng, Teng Hiang; Ladwa, Meera; Thomas, Nick; van Heel, David A; Weedon, Michael N; Yajnik, Chittaranjan S; Oram, Richard A; Chandak, Giriraj R; Martin, Hilary C; Finer, Sarah

A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus

自闭症相关基因的空间转录组图谱揭示了人类丘脑发育过程中的趋同现象

Aivazidis, Alexander; Memi, Fani; Rademaker, Koen; Koko, Mahmoud; Roberts, Kenny; Trinh, Andrew; Petryszak, Robert; Kleshchevnikov, Vitalii; Tuck, Liz; Lisgo, Steven; Li, Tong; Makarchuk, Stanislaw; Prete, Martin; Nowakowski, Tomasz J; Martin, Hilary C; Bayraktar, Omer Ali

Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants

通过纳入罕见、低频和人群特异性变异来改进2型糖尿病多基因风险评分

Taylor, Katie; Huerta-Chagoya, Alicia; Wang, Xiaoyu; Vora, Maheak; Li, Jiang; Turk, Lehte; Heng, Teng Hiang; Kim, Joohyun; Moreno-Estrada, Andres; Tusie-Luna, Teresa; Aguilar-Salinas, Carlos; Ng, Maggie; Martin, Hilary C; van Heel, David A; Manning, Alisa; Carey, David; Palta, Priit; Kurki, Mitja I; Finer, Sarah; Ge, Tian; Mirshahi, Uyenlinh L; Zhang, Haoyu; Mercader, Josep M