James Uphill

Wellcome Sanger Institute — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

32h-index12.2kcitations62works7.02yr avg
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Research Topics

Prion Diseases and Protein Misfolding(19), Neurological diseases and metabolism(19), Alzheimer's disease research and treatments(16), Amyotrophic Lateral Sclerosis Research(10), Trace Elements in Health(10)

Publications46 total

Identifying the best PCR enzyme for library amplification in NGS
Microbial Genomics·2024· 7 citedOpen Access
Identifying the best PCR enzyme for library amplification in NGS
Research Square (Research Square)·2022· 2 citedOpen Access
Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood
Biological Psychiatry·2022· 47 citedOpen Access
Identifying the best PCR enzyme for library amplification in NGS
2022· 1 citedOpen Access
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes
Biological Psychiatry·2021· 21 citedOpen Access
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
The Lancet Neurology·2020· 71 citedOpen Access
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
Scientific Reports·2020· 10 citedOpen Access
Genome-wide association study identifies risk variants for sporadic Creutzfeldt-Jakob disease in <i>STX6</i> and <i>GAL3ST1</i>
2020· 3 citedOpen Access
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics·2019· 86 citedOpen Access
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Scientific Reports·2019· 15 citedOpen Access
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Nature Genetics·2019· 3.1k citedOpen Access
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
Nature Medicine·2018· 152 citedOpen Access
Protein network analysis reveals selectively vulnerable regions and biological processes in FTD
Neurology Genetics·2018· 18 citedOpen Access
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Scientific Reports·2018· 2 citedOpen Access
CXCR4 involvement in neurodegenerative diseases
Translational Psychiatry·2018· 89 citedOpen Access
Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing
2018· 42 citedOpen Access
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Scientific Reports·2017· 44 citedOpen Access
Immune-related genetic enrichment in frontotemporal dementia
2017Open Access
RARE STRUCTURAL GENETIC VARIATION IN HUMAN PRION DISEASES
Journal of Neurology Neurosurgery & Psychiatry·2016
Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study
BMC Medical Genetics·2016· 3 citedOpen Access
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Frequent Co-authors

Simon Mead(38), John Collinge(19), Daniela Galimberti(16), Jonathan D. Rohrer(16), Tracy Campbell(15), Merçé Boada(14), Elio Scarpini(14), John Collinge(14), Mark Poulter(14), Raffaele Ferrari(13), Glenda M. Halliday(13), James B. Rowe(13), Martin N. Rossor(12), Holger Hummerich(12), Nick C. Fox(11), John Hardy(11), Adaikalavan Ramasamy(11), John B. Kwok(11), Carol Dobson‐Stone(11), Peter R. Schofield(11)