Joke J.F.A. van Vugt

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

Henk-Jan Westeneng, Thomas P. A. Debray, Anne E Visser et al. · The Lancet Neurology · 2018 · 517 citations · Full text

Life Sciences, Neurology, Neuroscience +14

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 · 437 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger et al. · Bioinformatics · 2019 · 409 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond et al. · Genome biology · 2020 · 227 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>

André B. P. Kuilenburg, Maja Tarailo‐Graovac, Phillip A. Richmond et al. · New England Journal of Medicine · 2019 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17