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Sarah Ennis

University of Southampton

51H指数
280论文数
10.0K被引数
收录论文 102
发表时间
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Automated GenePy gene-burden computation via a reproducible Nextflow workflow integrated with the Genomics England (GEL) Lifebit platform通过可重复的Nextflow工作流与Genomics England (GEL) Lifebit平台集成实现的GenePy基因负担自动计算
errNAR Genomics and Bioinformatics
IF2.8
err2026-09-28
err0
errOAAI
errIman Nazari; Guo Cheng; James Ashton; Sarah Ennis
err分享
err收藏
Hyperamylasaemia in paediatric inflammatory bowel disease: Aetiology, outcomes and genetic determinants儿科炎症性肠病中的高淀粉酶血症：病因、结局和遗传决定因素
errJournal of Pediatric Gastroenterology and Nutrition
IF2.6
err2026-07-01
err0
PREAI
errLopez, Fernando Vazquez; Kesavan, Pranav; Win, Lynn K.; Kurteva, Elena; Batra, Akshay; Afzal, Nadeem A.; Beattie, Robert M.; Vadgama, Bhumita; Allotey, Jacqueline; Ennis, Sarah; Ashton, James J.; Coelho, Tracy
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Genomic sequencing of multicystic mesothelioma finds cohesin complex mutations associated with disease recurrence in patients referred for cytoreductive surgery and HIPEC多房性间皮瘤的基因组测序发现，在转诊进行细胞减灭术和HIPEC的患者中，其疾病复发与连接蛋白复合体的突变相关。
errBritish Journal of Cancer
IF6.8
err2026-03-14
err0
errOAAI
errJane Gibson; Norman John Carr; Sophia Stanford; Amatta Mirandari; Thomas Desmond Cecil; Reuben J. Pengelly; Steven Turner; Jonathan W. Essex; Konstantinos Boukas; Kevin Hocking; Manuel Dominguez; Faheez Mohamed; Sanjeev Paul Dayal; Alexios Tzivanakis; Brendan John Moran; Gbadebo Adeleke; Alex Mirnezami; Sarah Ennis
err分享
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HiFi long-read RNA sequencing enhances clinical diagnostics in rare disordersHiFi长读长RNA测序技术增强了罕见病临床诊断
errEuropean Journal of Human Genetics
IF4.6
err2026-03-10
err0
errOAAI
errCarolina Jaramillo Oquendo; Federico Ferraro; Htoo A. Wai; Heather Ferrao; Herma van der Linde; Evita Karelioti; Liz Tseng; Harsharan Dhillon; Sam Holt; David J. Bunyan; Laura Donker Kaat; Marieke van Dooren; Jeff Zhou; Sarah Ennis; John W. Holloway; Tjakko J. van Ham; Diana Baralle
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Application of generative artificial intelligence to utilize unstructured clinical data for acceleration of inflammatory bowel disease research生成式人工智能在利用非结构化临床数据加速炎症性肠病研究中的应用
errMed
IF11.8
err2025-10-31
err0
errOAAI
errAlex Z. Kadhim; Zachary Green; Iman Nazari; Jonathan Baker; Michael George; Ashley Heinson; Bhumita Vadgama; Matt Stammers; Christopher M. Kipps; R. Mark Beattie; James J. Ashton; Sarah Ennis
err分享
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A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions对当代全外显子测序捕获试剂盒的系统分析，以优化CCDS区域的深度捕获
errNAR Genomics and Bioinformatics
IF2.8
err2025-09-01
err0
errOAAI
errFernando Vázquez López; James J Ashton; Guo Cheng; Sarah Ennis
err分享
err收藏
Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling利用全基因致病性建模鉴定血液胆固醇水平的遗传生物标志物
errMammalian Genome
IF2.7
err2025-06-06
err0
errOAAI
errSharon Sunny; Guo Cheng; Joshua Haria; Iman Nazari; Jagmohan Chauhan; Sarah Ennis
err分享
err收藏
Mutations in the Adhesion GPCR BAI2 Associated with Spastic Paraparesis与痉挛性轻截瘫相关的粘附性G蛋白偶联受体BAI2的突变
errJOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS
IF3.8
err2025-03-01
err0
PREAI
errRoy, Alex j.; Boraschi, Sophia; Seaby, Eleanor g.; Genetti, Casie a.; Estrella, Elicia a.; Pasquier, Florence; Benkirane, Mehdi; Darras, Basil t.; Ennis, Sarah; Hall, Randy a.
err分享
err收藏
Modelling human genetic disorders in Xenopus tropicalis对非洲爪蟾的人类遗传疾病进行建模
errDISEASE MODELS & MECHANISMS
IF3.3
err2024-06-04
err1
errOAAI
errWillsey, Helen Rankin; Seaby, Eleanor G.; Godwin, Annie; Ennis, Sarah; Guille, Matthew; Grainger, Robert M.
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A gene pathogenicity tool GenePy identifies missed biallelic diagnoses in the 100,000 Genomes Project
errGENETICS IN MEDICINE
IF6.2
err2024-04-01
err2
errOAAI
errSeaby, Eleanor G.; Leggatt, Gary; Cheng, Guo; Thomas, N. Simon; Ashton, James J.; Stafford, Imogen; Baralle, Diana; Rehm, Heidi L.; Donnell-Luria, Anne O. '; Ennis, Sarah
err分享
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Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis
errNATURE COMMUNICATIONS
IF15.7
err2023-05-19
err6
errOAAI
errSirvent, Sofia; Vallejo, Andres F.; Corden, Emma; Teo, Ying; Davies, James; Clayton, Kalum; Seaby, Eleanor G.; Lai, Chester; Ennis, Sarah; Alyami, Rfeef; Douilhet, Gemma; Dean, Lareb S. N.; Loxham, Matthew; Horswill, Sarah; Healy, Eugene; Roberts, Graham; Hall, Nigel J.; Friedmann, Peter S.; Singh, Harinder; Bennett, Clare L.; Ardern-Jones, Michael R.; Polak, Marta E.
err分享
err收藏
Supervised Machine Learning Classifies Inflammatory Bowel Disease Patients by Subtype Using Whole Exome Sequencing Data
errJOURNAL OF CROHNS & COLITIS
IF8.7
err2023-05-19
err6
errOAAI
errStafford, Imogen S.; Ashton, James J.; Mossotto, Enrico; Cheng, Guo; Beattie, R. Mark; Ennis, Sarah
err分享
err收藏
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency
errHUMAN MUTATION
IF3.7
err2023-04-11
err2
errOAAI
errPagnamenta, Alistair T. T.; Yu, Jing; Willis, Tracey A. A.; Hashim, Mona; Seaby, Eleanor G. G.; Walker, Susan; Xian, Jiaqi; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Forzano, Francesca; Cox, Helen; Dabir, Tabib; Brady, Angela F. F.; Ghali, Neeti; Atanur, Santosh S. S.; Ennis, Sarah; Baralle, Diana; Taylor, Jenny C. C.
err分享
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Response to Ramos et al
errGENETICS IN MEDICINE
IF6.2
err2022-12-01
err0
errOAAI
errSeaby, Eleanor G.; Baralle, Diana; Rehm, Heidi L.; O'Donnell-Luria, Anne; Ennis, Sarah
err分享
err收藏
Changes in the growth of very preterm infants in England 2006-20182006-2018英国极早产儿的生长变化
errARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
IF3.6
err2022-10-28
err0
errOAAI
errYoung, Aneurin; Cole, Tim J.; Cheng, Guo; Ennis, Sarah; Beattie, R. Mark; Johnson, Mark John
err分享
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NOD2 in Crohn's Disease-Unfinished Business
errJOURNAL OF CROHNS & COLITIS
IF8.7
err2022-08-25
err19
errOAAI
errAshton, James J.; Seaby, Eleanor G.; Beattie, R. Mark; Ennis, Sarah
err分享
err收藏
Evidence of a genetically driven metabolomic signature in actively inflamed Crohn's disease
errSCIENTIFIC REPORTS
IF3.9
err2022-08-18
err4
errOAAI
errMossotto, Enrico; Boberska, Joanna; Ashton, James J.; Stafford, Imogen S.; Cheng, Guo; Baker, Jonathan; Borca, Florina; Phan, Hang T. T.; Coelho, Tracy F.; Beattie, R. Mark; Claus, Sandrine P.; Ennis, Sarah
err分享
err收藏
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder
errHUMAN MUTATION
IF3.7
err2022-08-10
err5
errOAAI
errJanssen, Beau D. E.; van den Boogaard, Marie-Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury-Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Ounap, Katrin; Firth, Helen, V; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, Rong; Ennis, Sarah; Holwerda, Sjoerd J.; van Gassen, Koen; van Jaarsveld, Richard H.
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A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes基因到患者的方法提升了新疾病基因的发现并鉴定了18个推定的新疾病基因
errGENETICS IN MEDICINE
IF6.2
err2022-08-01
err13
errOAAI
errSeaby, Eleanor G.; Smedley, Damian; Tavares, Ana Lisa Taylor; Brittain, Helen; van Jaarsveld, Richard H.; Baralle, Diana; Rehm, Heidi L.; O'Donnell-Luria, Anne; Ennis, Sarah
err分享
err收藏
Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype
errCLINICAL KIDNEY JOURNAL
IF4.6
err2022-05-07
err1
errOAAI
errLeggatt, Gary; Gast, Christine; Gilbert, Rodney D.; Veighey, Kristin; Rahman, Tahmina; Ennis, Sarah
err分享
err收藏

研究方向

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合作学者
合作期刊
C
Cornelia M. van Duijn
H 指数: 238 · 论文数: 1.9K
A
André G. Uitterlinden
H 指数: 234 · 论文数: 2.0K
N
Nicholas G. Martin
H 指数: 221 · 论文数: 2.8K
K
Kāri Stefánsson
H 指数: 219 · 论文数: 1.2K
M
M Snyder
H 指数: 210 · 论文数: 3.3K
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