C. S. van der Werf

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

N. Galjart, D. Tibboel, R. Hofstra, 2016, Human molecular genetics.

Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.

R. Hauer, M. P. van den Berg, R. Hofstra, 2010, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.

D. Tibboel, R. Hofstra, G. T. te Meerman, 2012, Gastroenterology.

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder

Raoul Rooman, R. Hofstra, R. Maroofian, 2016, European Journal of Human Genetics.

Bowel Syndrome : from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation

R. Hofstra, J. Verheij, Christine S. van der Werf, 2015 .

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

J. Verheij, M. Alves, C. S. van der Werf, 2015, Biochimica et biophysica acta.

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

Raquel Seruca, Joana Paredes, Yunia Sribudiani, 2013, PloS one.