Mw. Dr. E. Aten

Klinisch Geneticus

Vakgebied(en)

  • Aangeboren en erfelijke hart-en vaataandoeningen
  • Erfelijke vormen van kanker
  • Aangeboren afwijkingen en/of verstandelijke beperking
  • Toepassing van genoombrede analyse technieken in de patientenzorg
  • Erfelijke vorm van slechthorendheid, kinderen (multidisciplinaire poli)

Research en Publicaties

 
 
 
 

Publications

Aten E, Sun Y, Almomani R, Santen GWE, Messemaker T, Maas SM, Breuning MH, den Dunnen JT. Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. Human Mutation. 2013;34:430-4

Aten E , Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Human Mutation. 2010;31(10):1125-33

Aten E , den Hollander N, Ruivenkamp C, Knijnenburg J, van Bokhoven H, den Dunnen J, Breuning M. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? Am J Med Genet A. 2009;149A(5):975-81

Aten E , White SJ, Kalf ME, Vossen RH, Thygesen HH, Ruivenkamp CA, Kriek M, Breuning MH, den Dunnen JT. Methods to detect CNVs in the human genome. Cytogenet Genome Res. 2008;123(1-4):313-21 S

Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Human Mutation. 2013 Nov;34(11):1519-28S

un Y, Almomani R, Breedveld G, Santen GWE, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, denDunnen JT, van de Warrenburg BP, Maat-Kievit AJA. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in late-infantile neuronal ceroid lipofuscinosis (CLN2). Human Mutation. 2013;34:706-13 A

Almomani R, Yu Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CMPCD, van Haeringen A, Hendriks YMC, den Dunnen JT, Breuning MH, Kriek M, Santen GWE. GPSM2 and Chudley-McCullough Syndrome: a Dutch founder variant brought to North America. Am J Med Genet A 2013; 161A(5):973-6

Nielsen M , Vermont CL, Aten E, Ruivenkamp CA, van Herrewegen F, Santen GW, Breuning MH. Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia. J Med Genet. 2012;49(9):598-600

Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nature Genetics. 2012;44(4):379-80

Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet. 2010;87(1):146-53 V

Vossen RH, Aten E, Roos A, den Dunnen JT. High-resolution melting analysis (HRMA): more than just sequence variant screening. Human Mutation. 2009;30(6):860-6

Herbert MA, Beveridge CJ, McCormick D, Aten E, Jones N, Snyder LA, Saunders NJ. Genetic islands of Streptococcus agalactiae strains NEM316 and 2603VR and their presence in other Group B streptococcal strains. BMC Microbiol. 2005;5:31

 
 
 
 
 


Contactgegevens

Leids Universitair Medisch Centrum
Gebouw 1
Kamer K05-198 / Route 807

Albinusdreef 2
2333 ZA Leiden

Postzone K5-S
Postbus 9600
2300 RC Leiden

E-mail: E.aten@lumc.nl