Christine S. van der Werf

<i>ACTG2</i>variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Robert M.W. Hofstra, Luca Signorile et al. · Human Molecular Genetics · 2015 · 69 citations

Life Sciences, Molecular Biology, Molecular Genetics +17

CLMP Is Required for Intestinal Development, and Loss-of-Function Mutations Cause Congenital Short-Bowel Syndrome

Christine S. van der Werf, Tara D. Wabbersen, Nai‐Hua Hsiao et al. · Gastroenterology · 2011 · 61 citations

Life Sciences, Developmental Biology, Genetics +11

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

Christine S. van der Werf, Yunia Sribudiani, Matthew Carroll et al. · Genetics in Medicine · 2012 · 41 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

Christine S. van der Werf, Nai‐Hua Hsiao, Siobhan Conroy et al. · PLoS ONE · 2013 · 24 citations · Full text

Life Sciences, Cell Biology, Genetics +17

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

Maria M. Alves, Danny Halim, Reza Maroofian et al. · European Journal of Human Genetics · 2016 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13