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

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

ADAMTS9 对 Meckel-Gruber 综合征蛋白 TMEM67 的切割可使 Wnt 信号传导与纤毛发生解耦联

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-60294-3
Ahmed Manu, Fischer Sydney, Robert Karyn L, Lange Karen I, Stuck Michael W, Best Sunayna, Johnson Colin A, Pazour Gregory J, Blacque Oliver E, Nandadasa Sumeda
信号转导
发表日期：2025
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Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project

在“十万基因组计划”先天性心脏病队列中进行分子诊断和候选基因鉴定

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01744-2
Hartill, Verity; Kabir, Mitra; Best, Sunayna; Shaikh Qureshi, Wasay Mohiuddin; Baross, Stephanie L; Lord, Jenny; Yu, Jing; Sasaki, Erina; Needham, Hazel; Shears, Deborah; Roche, Matthew; Wall, Elizabeth; Cooper, Nicola; Ryan, Gavin; Eason, Jacqueline; Johnson, Robert; Keavney, Bernard; Hentges, Kathryn E; Johnson, Colin A
心脏病
心血管
发表日期：2025
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Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies.

药物和siRNA筛选确定ROCK2是纤毛病的一种治疗靶点

期刊:Commun Med (Lond)
影响因子:
doi:10.1038/s43856-025-00847-1
Smith Claire E L, Streets Andrew J, Lake Alice V R, Natarajan Subaashini, Best Sunayna K, Szymanska Katarzyna, Karwatka Magdalena, Stevenson Thomas, Trowbridge Rachel, Grant Gary, Grellscheid Sushma N, Foster Richard, Morrison Ciaran G, Mavria Georgia, Bond Jacquelyn, Ong Albert C M, Johnson Colin A
其它
药物研究
发表日期：2025
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Plexin B2 (PLXNB2) 基因的双等位基因变异会导致牙釉质发育不全、听力丧失和智力障碍。

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109728
Smith, Claire E L; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L; Poulter, James A; Wortmann, Saskia B; Feichtinger, Rene G; Mayr, Johannes A; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C; Watson, Christopher M; Mansour, Sahar; Inglehearn, Chris F; Mighell, Alan J; Bloch-Zupan, Agnès
发育与干细胞
发表日期：2024
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Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis.

由 ADAMTS9 蛋白水解切割产生的 Meckel-Gruber 综合征蛋白 TMEM67 的两种功能形式介导 Wnt 信号传导和纤毛发生

期刊:
影响因子:
doi:10.1101/2024.09.04.611229
Ahmed Manu, Fischer Sydney, Robert Karyn L, Lange Karen I, Stuck Michael W, Best Sunayna, Johnson Colin A, Pazour Gregory J, Blacque Oliver E, Nandadasa Sumeda
信号转导
发表日期：2024
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Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort

释放英国十万基因组计划的潜力——从“纤毛病引起的先天性畸形”队列分析中汲取的经验教训

期刊:American Journal of Medical Genetics Part C-Seminars in Medical Genetics
影响因子:4.4
doi:10.1002/ajmg.c.31965
Best, Sunayna; Inglehearn, Chris F; Watson, Christopher M; Toomes, Carmel; Wheway, Gabrielle; Johnson, Colin A
发表日期：2022
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

揭示“十万基因组计划”中隐匿性纤毛病的负担：一种反向表型分析方法

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2022-108476
Best, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P J; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabrielle; Johnson, Colin A
发表日期：2022
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Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome

Bardet-Biedl综合征严重肾脏疾病的危险因素

期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.2015091029
Forsythe, Elizabeth; Sparks, Kathryn; Best, Sunayna; Borrows, Sarah; Hoskins, Bethan; Sabir, Ataf; Barrett, Timothy; Williams, Denise; Mohammed, Shehla; Goldsmith, David; Milford, David V; Bockenhauer, Detlef; Foggensteiner, Lukas; Beales, Philip L
发表日期：2017
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