All Outputs (9)

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. (2019). A comprehensive screening of copy-number variability in dementia with Lewy bodies. Neurobiology of Aging, 75, 223.e1-223.e10. https://doi.org/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 about A comprehensive screening of copy-number variability in dementia with Lewy bodies.

Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease (2018)
Journal Article
Chappell, S., Patel, T., Guetta-Baranes, T., Sang, F., Francis, P. T., Morgan, K., & Brookes, K. J. (2018). Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease. BMC Research Notes, 11(1), https://doi.org/10.1186/s13104-018-3732-8

Objectives In order to determine how gene expression is altered in disease it is of fundamental importance that the global distribution of gene expression levels across the disease-free brain are understood and how differences between tissue types... Read More about Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease.

Gene-Based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes For Alzheimer’s Disease (2018)
Working Paper
Baker, E., Sims, R., Leonenko, G., Frizzati, A., Harwood, J., Grozeva, D., …EADI Consortium. Gene-Based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes For Alzheimer’s Disease

A novel POLARIS gene-based analysis approach was employed to compute gene-based polygenic risk score (PRS) for all individuals in the latest HRC imputed GERAD (N cases=3332 and N controls=9,832) data using the International Genomics of Alzheimer's Pr... Read More about Gene-Based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes For Alzheimer’s Disease.

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease (2018)
Journal Article
Hartl, D., May, P., Gu, W., Mayhaus, M., Pichler, S., Spaniol, C., …Riemenschneider, M. (2020). A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. Molecular Psychiatry, 25, 629–639. https://doi.org/10.1038/s41380-018-0091-8

Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally importan... Read More about A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.

Analysis of shared heritability in common disorders of the brain (2018)
Journal Article
Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., …Neale, B. M. (2018). Analysis of shared heritability in common disorders of the brain. Science, 360(6395), Article eaap8757. https://doi.org/10.1126/science.aap8757

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,... Read More about Analysis of shared heritability in common disorders of the brain.

Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort (2018)
Journal Article
Brookes, K. J., McConnell, G., Williams, K., Chaudhury, S. R., Madhan, G., Patel, T., …Morgan, K. (2018). Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort. Journal of Alzheimer's Disease, 64(2), https://doi.org/10.3233/JAD-180191

The Brains for Dementia Research project is a recently established cohort which aims to provide brain tissue for research purposes from neuropathologically defined samples. Here we present the findings from our analysis on the 19 established GWAS in... Read More about Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort.

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease (2018)
Journal Article
Kucukkilic, E., Brookes, K., Barber, I., Guetta-Baranes, T., Morgan, K., & Hollox, E. (in press). Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease. Human Genetics, https://doi.org/10.1007/s00439-018-1883-2

Single nucleotide variants (SNVs) within and surrounding the complement receptor 1 (CR1) gene show some of the strongest genome-wide association signals with late-onset Alzheimer’s disease. Some studies have suggested that this association signal is... Read More about Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease.

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. https://doi.org/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 about A comprehensive assessment of benign genetic variability for neurodegenerative disorders.

Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3 (2018)
Journal Article
Sassi, C., Nalls, M., Ridge, P., Gibbs, R., Lupton, M., Troakes, C., …Hardy, J. (in press). Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3. Neurobiology of Aging, 66, Article 179.e17-179.e29. https://doi.org/10.1016/j.neurobiolaging.2018.01.015

Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, Cerebral Autosomal Dominant and Recessive Arteriopathy with Subcort... Read More about Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3.