Research Repository

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A comprehensive screening of copy-number variability in dementia with Lewy bodies (2018)
Journal Article
Kun-Rodrigues, C., Orme, T., Carmona, S., Hernandez, D. G., Ross, O. A., Eicher, J. D., …Bras, J. (2018). A comprehensive screening of copy-number variability in dementia with Lewy bodies. Neurobiology of Aging, doi:10.1016/j.neurobiolaging.2018.10.019

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable, however data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole genome genotyping of 1,454 DLB cases and 1,525 controls t... Read More

Heritability and genetic variance of dementia with Lewy bodies (2018)
Journal Article
Guerreiro, R., Escott-Price, V., Hernandez, D., Kun-Rodrigues, C., Ross, O., Orme, T., …Bras, J. (in press). Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease,

Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established... Read More

A comprehensive assessment of benign genetic variability for neurodegenerative disorders (2018)
Journal Article
Guerreiro, R., Sassi, C., Gibbs, J., Edsall, C., Hernandez, D., Brown, K., …Bras, J. (2018). A comprehensive assessment of benign genetic variability for neurodegenerative disorders. doi:10.1101/270686

Over the last few years, as more and more sequencing studies have been performed, it has become apparent that the identification of pathogenic mutations is, more often than not, a complex issue. Here, with a focus on neurodegenerative diseases, we ha... Read More

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study (2017)
Journal Article
Lewy bodies: a two-stage genome-wide association study. Lancet Neurology, 17(1), doi:10.1016/S1474-4422(17)30400-3. ISSN 1474-4422

Background Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson’s disease, and Alzheimer’s... Read More

Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglialmediated innate immunity in Alzheimer’s disease (2017)
Journal Article
Sims, R., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., …Morgan, K. (in press). Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglialmediated innate immunity in Alzheimer’s disease. Nature Genetics, 49(9), doi:10.1038/ng.3916. ISSN 1061-4036

We identified rare coding variants associated with Alzheimer's disease in a three-stage case–control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 ×... Read More

Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014)
Journal Article
Jones, L., Lambert, J., Wang, L., Choi, S., Harold, D., Vedernikov, A., …Holmans, P. (2015). Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimer's and Dementia, 11(6), 658-671. doi:10.1016/j.jalz.2014.05.1757

Background: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in... Read More

Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions (2012)
Journal Article
Lord, J., Turton, J., Medway, C., Shi, H., Brown, K., Lowe, J., …Morgan, K. (2012). Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions. International Journal of Molecular Epidemiology and Genetics, IJMEG, 3(4), ISSN 1948-1756

CLU, PICALM and CR1 were identified as genetic risk factors for late onset Alzheimer’s disease (AD) in two large genome wide association studies (GWAS) published in 2009, but the variants that convey this alteration in disease risk, and how the genes... Read More