Arve Vøllo

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen et al. · Human Mutation · 2016 · 58 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

Zelha Nil, Ashish R. Deshwar, Yan Huang et al. · The American Journal of Human Genetics · 2023 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Neuromuscular disorders in children in South-Eastern Norway

Knut Risberg, Arve Vøllo, Ola H. Skjeldal et al. · Journal of Pediatric Neurology · 2015 · 11 citations

Medicine, Neurology, Pediatrics +4