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J

James A. Poulter

University of Leeds

37H指数
135论文数
4.4K被引数
收录论文 66
发表时间
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Making multi-axis Gaussian graphical models scalable to millions of cells构建可扩展至数百万细胞的轴间高斯图模型
errBioinformatics
IF5.4
err2026-07-17
err0
errOAAI
errBailey Andrew; Erica L Harris; James A Poulter; David R Westhead; Luisa Cutillo; null
err分享
err收藏
Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders全外显子组测序揭示了与神经发育障碍中白质病理相关基因的新型和先前报告的变异
errEuropean Journal of Human Genetics
IF4.6
err2026-07-09
err0
errOAAI
errNaeem Ahmad; Tooba Aleem; Chunyu Liu; Maliha Rashid; Javeria Tehreem; Mary Ann Minal Junaid; Muhammad Farrukh Asif; Shakir Ullah; Sami Ullah; Tehseen Ullah Khan Afridi; Usman Raza Baig; Muhammad Tariq; Tahir Naeem Khan; Lydia Green; James A. Poulter; Naveed Altaf Malik
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Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders对常染色体纯合拷贝数缺失的外显子进行系统分析提高了诊断效率并发现了超罕见隐性障碍
errEuropean Journal of Human Genetics
IF4.6
err2026-06-27
err0
PREAI
errAnkur Chaurasia; Anju Shukla; Shruti Pande; Greeshma Purushothama; Akhil Kanathay Ashokan; Purvi Majethia; Namanpreet Kaur; Priyanka Upadhyai; Neha Quadri; Gandham SriLakshmi Bhavani; Dhanya Lakshmi Narayanan; Shalini S. Nayak; Sheela Nampoothiri; Ataf H. Sabir; Alaa A. Mohammed; Sophie Shaw; Verity L. Hartill; Christopher M. Watson; Colin A. Johnson; Afrah Alshammari; Andrew E. Fry; James A. Poulter; William G. Newman; Paul R. Kasher; Siddharth Banka; Katta M. Girisha
err分享
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RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis PigmentosaRP9 revisited；RP9 p.(H137L) 仍然是显性剪接因子-色素性视网膜炎的一个可能原因。
errEuropean Journal of Human Genetics
IF4.6
err2025-10-23
err0
errOAAI
errLeon Chang; James A. Poulter; Andrew R. Webster; Gavin Arno; Rajarshi Mukherjee; Andrew Lotery; Alison J. Hardcastle; Christopher M. Watson; Chris F. Inglehearn
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Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families外显子测序揭示巴基斯坦近亲结婚家庭中神经肌肉疾病的广泛遗传异质性
errEuropean Journal of Human Genetics
IF4.6
err2025-07-29
err0
errOAAI
errTooba Aleem; Maliha Rashid; Naeem Ahmad; Muhammad Farrukh Asif; Muhammad Tariq; Naveed Altaf Malik; James A. Poulter
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Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci使用定制smMIP试剂选择性富集目标位点的非综合征性牙本质发育不全患者队列的遗传筛查
errHuman Mutation
IF3.7
err2025-07-22
err0
errOAAI
errUmmey Hany; Christopher M. Watson; Lu Liu; Georgios Nikolopoulos; Claire E. L. Smith; James A. Poulter; Agne Antanaviciute; Alice Rigby; Richard Balmer; Catriona J. Brown; Anesha Patel; María Gabriela Acosta de Camargo; Helen D. Rodd; Michelle Moffat; Gina Murillo; Amal Mudawi; Hussain Jafri; Alan J. Mighell; Chris F. Inglehearn
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Treatment outcomes in patients with VEXAS syndrome: a retrospective cohort studyVEXAS综合征患者治疗效果：一项回顾性队列研究
errlancet rheumatology
IF0
err2025-05-21
err0
errOAAI
errAdam Al-Hakim; Roochi Trikha; Ei Ei Phyu Htut; Onima Chowdhury; Calman A MacLennan; Ashlyn Chee; Arvind Kaul; James A Poulter; Catherine Cargo; James M S Wason; Sammiya Ahmed; Tanya N Basu; Sukanya Gogoi; James Galloway; Stephen Jolles; Anoop Mistry; Elspeth M Payne; Rachel S Tattersall; Taryn Youngstein; Helen J Lachmann; Austin Kulasekararaj; Sinisa Savic
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Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease成人斯蒂尔病患者的遗传景观和新型炎症生物标志物的表征
errARTHRITIS & RHEUMATOLOGY
IF10.9
err2024-12-16
err0
errOAAI
errTopping, Joanne; Chang, Leon; Nadat, Fatima; Poulter, James A.; Ibbotson, Alice; Lara-Reyna, Samuel; Watson, Christopher M.; Carter, Clive; Pournara, Linda P.; Zernicke, Jan; Ross, Rebecca L.; Cargo, Catherine; Lyons, Paul A.; Smith, Kenneth G. C.; Del Galdo, Francesco; Rech, Juergen; Fautrel, Bruno; Feist, Eugen; Mcdermott, Michael F.; Savic, Sinisa; ImmunAID Consortium
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FACS-based detection of extracellular ASC specks from NLRP3 inflammasomes in inflammatory diseases基于FACS检测炎症性疾病中NLRP3炎性小体的细胞外ASC斑点
errCLINICAL AND EXPERIMENTAL IMMUNOLOGY
IF3.8
err2024-12-09
err0
errOAAI
errTopping, Joanne; Lara-Reyna, Samuel; Ibbotson, Alice; Jarosz-Griffiths, Heledd; Chang, Leon; Poulter, James; Peckham, Daniel; Mcdermott, Michael F.; Savic, Sinisa; ImmunAID Consortium
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CHARACTERISATION OF GENETIC LANDSCAPE AND NOVEL INFLAMMATORY BIOMARKERS IDENTIFIES NOVEL TREATMENT TARGETS IN ADULT-ONSET STILL'S DISEASE成人生存Still病中遗传景观和新型炎症生物标志物的特征描述鉴定出新型治疗靶点
errANNALS OF THE RHEUMATIC DISEASES
IF20.6
err2024-06-01
err0
PREAI
errChang, L.; Topping, J.; Nadat, F.; Poulter, J.; Watson, C.; Carter, C.; Pournara, L.; Zernicke, J.; Ross, R.; Cargo, C.; Del Galdo, F.; Rech, J.; Fautrel, B.; Feist, E.; Mcdermott, M.; Savic, S.
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2024-03-08
err1
errOAAI
errSmith, 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, Agnes
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IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapyIDHwt胶质母细胞瘤可以通过其对标准治疗的转录反应进行分层，对靶向治疗有影响
errGENOME BIOLOGY
IF9.4
err2024-02-07
err6
errOAAI
errTanner, Georgette; Barrow, Rhiannon; Ajaib, Shoaib; Al-Jabri, Muna; Ahmed, Nazia; Pollock, Steven; Finetti, Martina; Rippaus, Nora; Bruns, Alexander F.; Syed, Khaja; Poulter, James A.; Matthews, Laura; Hughes, Thomas; Wilson, Erica; Johnson, Colin; Varn, Frederick S.; Bruning-Richardson, Anke; Hogg, Catherine; Droop, Alastair; Gusnanto, Arief; Care, Matthew A.; Cutillo, Luisa; Westhead, David R.; Short, Susan C.; Jenkinson, Michael D.; Brodbelt, Andrew; Chakrabarty, Aruna; Ismail, Azzam; Verhaak, Roel G. W.; Stead, Lucy F.
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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes复发性从头MAX p.Arg60Gln变体通过c-myc靶基因的差异表达引起综合征过度生长障碍
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-01-01
err1
errOAAI
errHarris, Erica L.; Roy, Vincent; Montagne, Martin; Rose, Ailsa M. S.; Livesey, Helen; Reijnders, Margot R. F.; Hobson, Emma; Sansbury, Francis H.; Willemsen, Marjolein H.; Pfundt, Rolph; Warren, Daniel; Long, Vernon; Carr, Ian M.; Brunner, Han G.; Sheridan, Eamonn G.; Firth, Helen V.; Lavigne, Pierre; Poulter, James A.
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Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes
errJOURNAL OF DENTAL RESEARCH
IF5.9
err2023-12-06
err3
errOAAI
errHany, U.; Watson, C. M.; Liu, L.; Nikolopoulos, G.; Smith, C. E. L.; Poulter, J. A.; Brown, C. J.; Patel, A.; Rodd, H. D.; Balmer, R.; Harfoush, A.; Al-Jawad, M.; Inglehearn, C. F.; Mighell, A. J.
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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta杂合子COL17A1变异是成色不全的常见原因
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-11-18
err4
errOAAI
errHany, Ummey; Watson, Christopher M.; Liu, Lu; Smith, Claire E. L.; Harfoush, Asmaa; Poulter, James A.; Nikolopoulos, Georgios; Balmer, Richard; Brown, Catriona J.; Patel, Anesha; Simmonds, Jenny; Charlton, Ruth; Acosta de Camargo, Maria Gabriela; Rodd, Helen D.; Jafri, Hussain; Antanaviciute, Agne; Moffat, Michelle; Al-Jawad, Maisoon; Inglehearn, Chris F.; Mighell, Alan J.
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Recovery of Bone Marrow Function in VEXAS Syndrome-potential Role for RomiplostimVEXAS综合征中骨髓功能的恢复-Romiplostim的潜在作用
errHEMASPHERE
IF14.6
err2023-08-01
err5
errOAAI
errAl-Hakim, Adam; Cull, Alyssa; Topping, Joanna; Nadat, Fatima; Milek, Joanna; Alhefzi, Razan F.; McDermott, Michael F.; Owen, Roger; Cargo, Catherine; Poulter, James G.; Kent, David G.; Savic, Sinisa
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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
errGENETICS IN MEDICINE
IF6.2
err2023-07-01
err4
errOAAI
errReijnders, Margot R. F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J. C.; Ott, Torsten; Klaas, Oliver; Horvath, Judit; Rose, Ailsa M. S.; Craghill, Isabel M.; Brunet, Theresa; Graf, Elisabeth; Mayerhanser, Katharina; Hellebrekers, Debby; Pauck, David; Neuen-Jacob, Eva; Rodenburg, Richard J. T.; Wieczorek, Dagmar; Klee, Dirk; Mayatepek, Ertan; Driessen, Gertjan; Bindermann, Robert; Averdunk, Luisa; Lohmeier, Klaus; Sinnema, Margje; Stegmann, Alexander P. A.; Roepman, Ronald; Poulter, James A.; Distelmaier, Felix
err分享
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Re: Yahya et al.: Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene (Ophthalmology. 2023;130:68-76) Reply
errOPHTHALMOLOGY
IF9.5
err2023-03-01
err0
errOAAI
errInglehearn, Chris F.; Yahya, Samar; Smith, Claire E. L.; Poulter, James A.; Ali, Manir; Toomes, Carmel; Ellingford, Jamie; Black, Graeme C.; Arno, Gavin; Webster, Andrew R.
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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
errOPHTHALMOLOGY
IF9.5
err2023-01-01
err8
errOAAI
errYahya, Samar; Smith, Claire E. L.; Poulter, James A.; McKibbin, Martin; Arno, Gavin; Ellingford, Jamie; Kampjarvi, Kati; Khan, Muhammad, I; Cremers, Frans P. M.; Hardcastle, Alison J.; Castle, Bruce; Steel, David H. W.; Webster, Andrew R.; Black, Graeme C.; El-Asrag, Mohammed E.; Ali, Manir; Toomes, Carmel; Inglehearn, Chris F.
err分享
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A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts
errJOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
err2022-04-02
err25
errOAAI
errPoulter, James; Morgan, Ann; Cargo, Catherine; Savic, Sinisa
err分享
err收藏

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