Evelien Zonneveld‐Huijssoon

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 · 147 citations · Full text

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Gunnar Houge, Dorien Haesen, Lisenka E.L.M. Vissers et al. · Journal of Clinical Investigation · 2015 · 123 citations · Full text

Safety of measles, mumps and rubella vaccination in juvenile idiopathic arthritis

M.W. Heijstek, Gecilmara Salviato Pileggi, Evelien Zonneveld‐Huijssoon et al. · Annals of the Rheumatic Diseases · 2007 · 121 citations · Full text

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 97 citations · Full text

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara Skraban, Constance Wells, Preetha Markose et al. · The American Journal of Human Genetics · 2017 · 90 citations · Full text

Intellectual Impairment, Corticobasal Degeneration, Neurological Disorder +7