Anneke T. Vulto-van Silfhout

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

Diagnostic exome sequencing in persons with severe intellectual disability.

Christian Gilissen, Alexander Hoischen, Han G. Brunner, 2012, New England Journal of Medicine.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.