Shatunov, Aleksey

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Associations and Epidemiology

Cited by 542

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Min, J. L., Hemani, G., Hannon, E., Dekkers, K. F., Castillo-Fernandez, J., Luijk, R., Carnero-Montoro, E., Lawson, D. J., Burrows, K., Suderman, M., et al. (2021) · Nature Genetics

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 506

Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 388

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

Lill, C. M., Rengmark, A., Pihlstrøm, L., Fogh, I., Shatunov, A., Sleiman, P. M., Wang, L., Liu, T., Lassen, C. F., Meissner, E., et al. (2015) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 205

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

Prins, B. P., Abbasi, A., Wong, A., Vaez, A., Nolte, I., Franceschini, N., Stuart, P. E., Guterriez Achury, J., Mistry, V., Bradfield, J. P., et al. (2016) · PLOS Medicine

Genetic Associations and EpidemiologyAdipokines, Inflammation, and Metabolic Diseases

Cited by 199

The chromosome 9 ALS and FTD locus is probably derived from a single founder

Mok, K., Traynor, B. J., Schymick, J., Tienari, P. J., Laaksovirta, H., Peuralinna, T., Myllykangas, L., Chiò, A., Shatunov, A., Boeve, B. F., et al. (2012) · Neurobiology of Aging

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 131

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

Troakes, C., Maekawa, S., Wijesekera, L., Rogelj, B., Siklós, L., Bell, C., Smith, B., Newhouse, S., Vance, C., Johnson, L., et al. (2012) · Neuropathology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 124

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

Initiative, A. D. N., Iacoangeli, A., Al Khleifat, A., Jones, A. R., Sproviero, W., Shatunov, A., Opie-Martin, S., Morrison, K. E., Shaw, P. J., Shaw, C. E., et al. (2019) · Acta Neuropathologica Communications

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 102

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

study, T. A. I. B. A. L., Nabais, M. F., Initiative, T. A. D. N., Laws, S. M., Lin, T., Vallerga, C. L., Armstrong, N. J., Blair, I. P., Kwok, J. B., Mather, K. A., et al. (2021) · Genome Biology

Epigenetics and DNA MethylationDementia and Cognitive Impairment Research

Cited by 99

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS

Eitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., et al. (2022) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchMultiple Sclerosis Research Studies

Cited by 38