Erica H. Gerkes

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A. Koolen, Rolph Pfundt, Katrin Linda et al. · European Journal of Human Genetics · 2015 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino et al. · European Journal of Human Genetics · 2009 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert et al. · Nature Communications · 2019 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al. · The American Journal of Human Genetics · 2017 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16