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Annelies de Klein, PhD

Dr. J.E.M.M. de Klein Afbeelding
Assistant Professor

Department of Clinical Genetics
Erasmus MC
Faculty Building, Ee2089
Wytemaweg 80
3015 CN Rotterdam
The Netherlands  

Email: a.deklein@erasmusmc.nl
Tel: +31 (0) 10 7044153 / 7043382
Fax: +31 (0) 10 704 4736


Biographical sketch
Annelies 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. Prime research interests are chromosomal aberrations, either in congenital abnormalities as esophageal atresia or congenital hernia diaphragmatica  or in human cancers (uvea melanoma). The main focus of molecular (cyto) genetic research is 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 and cancer.


Publications
S Yavuzyigitoglu, AE. Koopmans, RM. Verdijk, J Vaarwater, B Eussen, A van Bodegom, D Paridaens, E Kiliç,  A de Klein,  on behalf of the Rotterdam Ocular Melanoma Study Group.  Uveal Melanomas with SF3B1 MutationsA Distinct Subclass Associated with Late-Onset Metastases. Ophthalmology 2016 in press

Koopmans AE, Verdijk RM, Brouwer RW, van den Bosch TP, van den Berg MM, Vaarwater J, Kockx CE, Paridaens D, Naus NC, Nellist M, van IJcken WF, Kiliç E, de Klein A. Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma. Mod Pathol. 2014; 27:1321-30

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 DC, de Klein A, Tibboel D. Developmental and genetic aspects of congenital diaphragmatic hernia. Pediatr Pulmonol. 2012 Jun;47(6):534-545.

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 Mar;20(3):298-304.

van den Bosch T, van Beek JG, Vaarwater J, Verdijk RM, Naus NC, Paridaens D, de Klein A, Kiliç E. Higher percentage of FISH-determined monosomy 3 and 8q amplification in uveal melanoma cells relate to poor patient prognosis. Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2668-2674.

Noordermeer D, de Wit E, Klous P, van de Werken H, Simonis M, Lopez-Jones M, Eussen B, de Klein A, Singer RH, de Laat W. Variegated gene expression caused by cell-specific long-range DNA interactions. Nat Cell Biol. 2011 Jun 26;13(8):944-951.


Post address:
Erasmus MC
Department of Clinical Genetics
Annelies de Klein PhD, Room Ee-2089
Postbus 2040
3000 CA Rotterdam
The Netherlands