Annelies de Klein

Annelies de Klein portraitAnnelies de Klein obtained her PhD in 1987 (cum laude, dept. Cell Biology and Genetics) and was 2 years a visiting Fogarty fellow at the NIH-National Cancer Institute in Frederick, USA (ZWO grant, NIH-Fogarty Fellowship). In 1988 she returned to the Genetics department and from 1990-1995 she was appointed as Research Fellow of the Royal Netherlands Academy of Arts and studied genomic instability by characterizing the effects of cell cycle checkpoint genes and chromosome aberrations in (eye) tumors. In 2000 she started as a staff cytogeneticist and senior researcher at the dept. Clinical Genetics. In 2006 she was appointed associate Professor. She is (co)author of over 180 peer-reviewed articles in international journals and co-promotor of 15 PhD students. A longstanding research interest is the role of chromosomal aberrations in cancers or in congenital anomalies.
The main focus of research is on the detection and identification of new (cryptic) chromosomal abnormalities and mutations, their clinical relevance for diagnosis and treatment and their mechanisms in the etiology of congenital malformations.

  • Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A. Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies. Eur J Med Genet. 2014 57: 440-52.
  • Brosens E, de Jong EM, Barakat TS, Eussen BH, D’haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Structural and numerical changes of chromosome X in patients with esophageal atresia. Eur J Hum Genet. 2014; 22:1077-84.
  • Brosens E, Eussen H, van Bever Y, van der Helm RM, IJsselstijn H, Zaveri HP, Wijnen R, Scott DA, Tibboel D, de Klein A. VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. Mol Syndromol. 2013 ;4:20-6.
  • Veenma D, Brosens E, de Jong E, van de Ven C, Meeussen C, Cohen-Overbeek T, Boter M, Eussen H, Douben H, Tibboel D, de Klein A. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. Eur J Hum Genet. 2012; 20:298-304.