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Research Interests

Papers共 105 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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期刊级别
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Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B
Tomer Poleg, Noam Hadar,Eyal Kristal, Nicola Y Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G Sheridan,James A Poulter,Michelle L Thompson, Yusra Algoos, Salma Al-Qahtani,Lama AlAbdi,Sateesh Maddirevula,Verity Hartill,Henry Houlden,Reza Maroofian, Amit Nahum,Ohad S Birk
Movement disorders official journal of the Movement Disorder Society (2025)
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Multiple and Novel Molecular Mechanisms in TUBA1A-related Tubulinopathy: Insights from Deep Clinical and Neuroradiological Phenotyping
James Fasham, Rucha Pandit, Adam T Higgins, Dowon Kim, Karl Austin-Muttitt, Anna V Derrick, Robert Gunn, Maya Matty,Nicola Ragge, Kate E Chandler, Gabriela E Jones,Mohnish Suri,Alison Kraus,Tabib Dabir, Katrina Stone, Wendy D Jones,Julia Rankin,James A Poulter, Marilena Elpidorou,Eamonn Sheridan,Colin A. Johnson,Helen V Firth,Siddharth Banka,Ruth Newbury-Ecob,Neeti Ghali, Andrew J Green,Shelagh Joss,Sahar Mansour,Pradeep Vasudevan, Michael J Parker,Jonathan GL Mullins, Adam G Thomas,Seo-Kyung Chung,Abhijit Dixit
medrxiv（2025）
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Mapping VEXAS-associated and Rare UBA1 Variants in the United Kingdom: Insights from Patient Cohorts and the General Population
Ana Martinez Rodriguez, Leon Chang,Dorota Rowczenio,Alexandra Smith, Ebun Omoyinmi,James A Poulter,Andrew McGregor, Sebastian Francis,Roochi Trikha, Adam Al-Hakim, Kar Lok Kong, David G Kent,Helen Lachmann,Austin Kulasekararaj, Catherine Cargo,Sinisa Savic
British journal of haematology (2025)
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OP0006 CHARACTERISATION OF GENETIC LANDSCAPE AND NOVEL INFLAMMATORY BIOMARKERS IDENTIFIES NOVEL TREATMENT TARGETS IN ADULT-ONSET STILL’S DISEASE
Chang 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.
Annals of the Rheumatic Diseases (2024): 200-201
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Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes
U. Hany, C. M. Watson, L. Liu, G. Nikolopoulos,C. E. L. Smith,J. A. Poulter,C. J. Brown, A. Patel,H. D. Rodd,R. Balmer, A. Harfoush, M. Al-Jawad,C. F. Inglehearn,A. J. Mighell
JOURNAL OF DENTAL RESEARCHno. 1 (2024): 22-30
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Author Statistics

#Papers: 106

#Citation: 3494

H-Index: 33

G-Index: 57

Sociability: 7

Diversity: 3

Activity: 22

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