Hélène Verhelst

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Life Sciences, Genetics, Molecular Genetics +16

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

Benson Ogunjimi, Shen‐Ying Zhang, Katrine B. Sørensen et al. · Journal of Clinical Investigation · 2017 · 153 citations · Full text

Life Sciences, Immunology, Infectious Diseases +17

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

Vagus nerve stimulation for refractory epilepsy: A Belgian multicenter study

Veerle De Herdt, Paul Boon, Berten Ceulemans et al. · European Journal of Paediatric Neurology · 2007 · 143 citations

Medicine, Neurology, Neuroscience +15