Publications

Publications

2013

Li, S.-C. et al., 2013. Aging magnifies the effects of dopamine transporter and D2 receptor genes on backward serial memory. Neurobiology of aging, 34(1), pp.358.e1–10.

Lill, C.M., Schjeide, B.-M. & Graetz, C., 2013. Genome-wide significant association of ANKDRD55 rs6859219 and multiple sclerosis risk. Journal of Medical Genetics, online.

 

2012

Bertram, Lars & Tanzi, Rudolph E, 2012. The genetics of Alzheimer’s disease. Progress in molecular biology and translational science, 107, pp.79–100.

Elias-Sonnenschein, L.S., Bertram, Lars & Visser, P.J., 2012. Relationship between genetic risk factors and markers for Alzheimer’s disease pathology. Biomarkers in medicine, 6(4), pp.477–495.

González-Pérez, P. et al., 2012. Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Neurobiology of disease, 48(3), pp.391–398.

Hooli, B.V. et al., 2012. Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology, 78(16), pp.1250–1257.

Lebedeva, E. et al., 2012. Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD. Neurobiology of Aging, 33(1), pp.201.e9–18.

Lill, C.M., Liu, T., et al., 2012. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. Journal of medical genetics, 49(9), pp.558–562.

Lill, C.M., Roehr, Johannes T, et al., 2012. Comprehensive research synopsis and systematic meta-analyses in Parkinson’s disease genetics: The PDGene database. PLoS genetics, 8(3), p.e1002548.

Lill, C.M., Schjeide, B.-M.M., et al., 2012. Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample. Neurogenetics, 13(1), pp.83–86.

Lill, C.M. & Bertram, Lars, 2012. Developing the “next generation” of genetic association databases for complex diseases. Human mutation, 33(9), pp.1366–1372.

Sharma, M., Ioannidis, J.P.A., Aasly, J.O., Annesi, G., Brice, A., Bertram, Lars, et al., 2012. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Journal of medical genetics, 49(11), pp.721–726.

Sharma, M., Ioannidis, J.P.A., Aasly, J.O., Annesi, G., Brice, A., Van Broeckhoven, C., et al., 2012. Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology, 79(7), pp.659–667.

Sobrido, M.-J. et al., 2012. Databases for neurogenetics: introduction, overview, and challenges. Human mutation, 33(9), pp.1311–1314.

Wallace, B.C. et al., 2012. Toward modernizing the systematic review pipeline in genetics: efficient updating via data mining. Genetics in medicine: official journal of the American College of Medical Genetics, 14(7), pp.663–669.

Won, S. et al., 2012. On the Meta-Analysis of Genome-Wide Association Studies: A Robust and Efficient Approach to Combine Population and Family-Based Studies. Human Heredity, 73(1), pp.35–46.

 

2011

Bertram, L., 2011. Alzheimer’s genetics in the GWAS era: a continuing story of “replications and refutations”. Current Neurology and Neuroscience Reports, 11(3), pp.246–253.

Bertram, L. & Hampel, H., 2011. The role of genetics for biomarker development in neurodegeneration. Progress in Neurobiology, 95(4), pp.501–504.

Chatzinasiou, F. et al., 2011. Comprehensive field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma. Journal of the National Cancer Institute, 103(16), pp.1227–1235.

Haapasalo, A. et al., 2011. Involvement of ubiquilin-1 transcript variants in protein degradation and accumulation. Communicative & Integrative Biology, 4(4), pp.428–432.

Hampel, H. et al., 2011. The future of Alzheimer’s disease: the next 10 years. Progress in Neurobiology, 95(4), pp.718–728.

Haworth, A. et al., 2011. Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics, 12(3), pp.169–173.

Hiltunen, M., Bertram, L. & Saunders, A.J., 2011. Genetic risk factors: their function and comorbidities in Alzheimer’s disease. International Journal of Alzheimer’s Disease, 2011, p.925362.

Lill, C.M. et al., 2011. Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases. Amyotrophic Lateral Sclerosis: Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 12(4), pp.238–249.

Lill, C.M. & Bertram, L., 2011. Towards unveiling the genetics of neurodegenerative diseases. Seminars in Neurology, 31(5), pp.531–541.

Pfeiffer, T., Bertram, L. & Ioannidis, J.P.A., 2011. Quantifying selective reporting and the Proteus phenomenon for multiple datasets with similar bias. PloS One, 6(3), p.e18362.

Sarajärvi, T. et al., 2011. Cysteine 27 variant of the delta-opioid receptor affects amyloid precursor protein processing through altered endocytic trafficking. Molecular and Cellular Biology, 31(11), pp.2326–2340.

Schjeide, B.-M.M. et al., 2011. The role of clusterin, complement receptor 1, and phosphatidylinositol binding clathrin assembly protein in Alzheimer disease risk and cerebrospinal fluid biomarker levels. Archives of General Psychiatry, 68(2), pp.207–213.

Viswanathan, J. et al., 2011. Alzheimer’s disease-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation. Traffic (Copenhagen, Denmark), 12(3), pp.330–348.

 

2010

Bertram, Lars, Lill, C.M. & Tanzi, R.E., 2010. The genetics of Alzheimer disease: back to the future. Neuron, 68(2), pp.270–281.

Bertram, Lars & Tanzi, R.E., 2010. Alzheimer disease: New light on an old CLU. Nature Reviews. Neurology, 6(1), pp.11–13.

Castaldi, P.J. et al., 2010. The COPD genetic association compendium: a comprehensive online database of COPD genetic associations. Human Molecular Genetics, 19(3), pp.526–534.

Dolan, S.M. et al., 2010. Synopsis of preterm birth genetic association studies: the preterm birth genetics knowledge base (PTBGene). Public Health Genomics, 13(7-8), pp.514–523.

Giedraitis, V. et al., 2010. CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid. Neuroscience Letters, 469(2), pp.265–267.

Haapasalo, A. et al., 2010. Emerging role of Alzheimer’s disease-associated ubiquilin-1 in protein aggregation. Biochemical Society Transactions, 38(Pt 1), pp.150–155.

Lambert, J.-C. et al., 2010. The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer’s disease: a meta-analysis study. Journal of Alzheimer’s Disease: JAD, 22(1), pp.247–255.

Laumet, G. et al., 2010. Systematic analysis of candidate genes for Alzheimer’s disease in a French, genome-wide association study. Journal of Alzheimer’s Disease: JAD, 20(4), pp.1181–1188.

Lill, C.M. et al., 2010. Correspondence to Sand et Al. “Critical reappraisal of a catechol-o-methyltransferase transversion variant in schizophrenia”. Biological Psychiatry, 67(7), pp.e45–48.

Lill, C.M. & Bertram, Lars, 2010. Online databases and systematic meta-analyses of genetically complex diseases. Medizinische Genetik, 22(2).

Pihlajamäki, M. et al., 2010. Evidence of altered posteromedial cortical FMRI activity in subjects at risk for Alzheimer disease. Alzheimer Disease and Associated Disorders, 24(1), pp.28–36.

Saykin, A.J. et al., 2010. Alzheimer’s Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans. Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association, 6(3), pp.265–273.

Sleegers, K. et al., 2010. The pursuit of susceptibility genes for Alzheimer’s disease: progress and prospects. Trends in Genetics: TIG, 26(2), pp.84–93.

Timmermann, B. et al., 2010. Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PloS One, 5(12), p.e15661.

 

2009

Bertram, L., 2009. Alzheimer’s disease genetics current status and future perspectives. International Review of Neurobiology, 84, pp.167–184.

Bertram, L. & Tanzi, R.E., 2009. Genome-wide association studies in Alzheimer’s disease. Human Molecular Genetics, 18(R2), pp.R137–145.

Fardo, D.W. et al., 2009. Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy-Weinberg equilibrium. European Journal of Human Genetics: EJHG, 17(12), pp.1676–1682.

Khoury, M.J. et al., 2009. Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases. American Journal of Epidemiology, 170(3), pp.269–279.

Lu, A. et al., 2009. Effects of ubiquilin 1 on the unfolded protein response. Journal of Molecular Neuroscience: MN, 38(1), pp.19–30.

Schjeide, B.-M.M., McQueen, M.B., et al., 2009. Assessment of Alzheimer’s disease case-control associations using family-based methods. Neurogenetics, 10(1), pp.19–25.

Schjeide, B.-M.M., Hooli, B., et al., 2009. GAB2 as an Alzheimer disease susceptibility gene: follow-up of genomewide association results. Archives of Neurology, 66(2), pp.250–254.

 

2008

Bertram, L., Lange, C., et al., 2008. Genome-wide association analysis reveals putative Alzheimer’s disease susceptibility loci in addition to APOE. American Journal of Human Genetics, 83(5), pp.623–632.

Bertram, L., Schjeide, B.-M.M., et al., 2008. No association between CALHM1 and Alzheimer’s disease risk. Cell, 135(6), pp.993–994; author reply 994–996.

Kavvoura, F.K. et al., 2008. Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer’s disease. American Journal of Epidemiology, 168(8), pp.855–865.

 
loading content