Jordi Pérez‐Tur

Instituto de Salud Carlos III — Spain

Medicine · Health Sciences

59h-index19.0kcitations197works4.82yr avg
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Research Topics

Alzheimer's disease research and treatments(69), Parkinson's Disease Mechanisms and Treatments(43), Bioinformatics and Genomic Networks(20), Neurological diseases and metabolism(20), Amyotrophic Lateral Sclerosis Research(19)

Publications179 total

Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2
Nature Communications·2025· 1 citedOpen Access
OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2
iScience·2025Open Access
Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer’s Disease in European Populations: Development and Validation
2025· 1 citedOpen Access
Machine learning in Alzheimer’s disease genetics
Nature Communications·2025· 5 citedOpen Access
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations
Nature Genetics·2025· 9 citedOpen Access
GWAS meta-analysis of CSF Alzheimer's disease biomarkers 18,948 individuals reveal novel loci and genes regulating lipid metabolism, brain volume and autophagy
2025· 1 citedOpen Access
A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC
European Journal of Human Genetics·2025· 2 citedOpen Access
<i>APOE</i> stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers’s disease
2025· 1 citedOpen Access
Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO
Functional & Integrative Genomics·2025· 1 citedOpen Access
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
The Journal of Experimental Medicine·2024· 10 citedOpen Access
X‐chromosome-wide association study for Alzheimer’s disease
Molecular Psychiatry·2024· 6 citedOpen Access
Connecting genomic and proteomic signatures of amyloid burden in the brain
2024· 1 citedOpen Access
Influence of daily life and health profile in subtle cognitive decline of women residing in Spanish religious communities: DeCo religious orders study
Frontiers in Public Health·2024· 1 citedOpen Access
A Novel Susceptibility Locus in <i>NFASC</i> Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology
2024· 2 citedOpen Access
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection
Human Genetics and Genomics Advances·2024· 5 citedOpen Access
Special Issue “Molecular and Genetic Aspects of SARS-CoV-2 Infection and COVID-19 Disease”
International Journal of Molecular Sciences·2024Open Access
Rare copy number variation in the GR@ACE/DEGESCO dementia dataset of spanish population
Alzheimer s & Dementia·2023Open Access
PSP/DEGESCO: A Progressive Supranuclear Palsy Genome‐Wide Association Study in the Spanish Population
Alzheimer s & Dementia·2023Open Access
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature·2023· 97 citedOpen Access
Transferability of European-derived Alzheimer’s Disease Polygenic Risk Scores across Multi-Ancestry Populations
2023Open Access
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Frequent Co-authors

John Hardy(21), Richard Crook(12), Marie‐Christine Chartier‐Harlin(8), Matti Haltia(7), Philippe Amouyel(7), Adolfo López de Munaín(6), Karen Duff(6), Henry Houlden(6), Alison Goate(6), Pau Pástor(6), Jean‐Charles Lambert(6), Guy Prihar(5), Jordi Clarimón(5), Liisa Myllykangas(5), Amets Sáenz(4), J.F. Martí-Massó(4), Mike Hutton(4), Nitin D. Mehta(4), Martin N. Rossor(4), Auli Verkkoniemi(4)