Aleksey Shatunov

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

Josine L. Min, Gibran Hemani, Eilís Hannon et al. · Nature Genetics · 2021 · 500 citations · Full text

Biology, Chromatin, Genetic Effects +9

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

Susan Byrne, Marwa Elamin, Peter Bede et al. · The Lancet Neurology · 2012 · 490 citations · Full text

C9orf72 Repeat Expansion, Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis +7

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

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw et al. · Genome Research · 2017 · 413 citations · Full text

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker et al. · Nature Genetics · 2016 · 278 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Neurological Disorder +4

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

Bradley Smith, Stephen Newhouse, Aleksey Shatunov et al. · European Journal of Human Genetics · 2012 · 229 citations · Full text

Amyotrophic Lateral Sclerosis, Genetic Disorder, Genetics +8