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drs. ing. E. van Binsbergen

drs. ing. E. van Binsbergen

PHD Candidate - Other

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Research Output (88)

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

Migliavacca Eugenia et al. 7 May 2015, In: American Journal of Human Genetics. 96 , p. 784-796 13 p.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

de Pagter MS, van Roosmalen Markus J., Baas AF, Renkens Ivo, Duran KJ, van Binsbergen E, Tavakoli-Yaraki Masoumeh, Hochstenbach PFR, van der Veken LTJN, Cuppen EPJG, Kloosterman WP 22 Apr 2015,

Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

de Pagter Mirjam S., van Roosmalen Markus J., Baas AF, Renkens I.J., Duran KJ, van Binsbergen E, Tavakoli-Yaraki Masoumeh, Hochstenbach Ron, van der Veken Lars T., Cuppen Edwin, Kloosterman Wigard P. 2 Apr 2015, In: American Journal of Human Genetics. 96 , p. 651-656 6 p.

Further confirmation of the MED13L haploinsufficiency syndrome

van Haelst M.M., Monroe G.R., Duran K.J., van Binsbergen E., Breur J.M.P.J., Giltay J.C., van Haaften G.W. Jan 2015, In: European Journal of Human Genetics. 23 , p. 135-138 4 p.

Genomic and functional overlap between somatic and germline chromosomal rearrangements

van Heesch S.A.A.C., Simonis M.J., van Roosmalen M.J., Pillalamarri V., van den Brand H., Kuijk E.W., de Luca K.L., Lansu N., Braat A.K., Menelaou A., Hao W., Korving J., Snijder S., van der Veken L.T., Hochstenbach R., Knegt A.C., Duran K., Renkens I.J., Alekozai N., Jager M., Vergult S., Menten B., de Bruijn M.E., Boymans S., Ippel P.F., van Binsbergen E., Talkowski M.E., Lichtenbelt K.D., Cuppen E.P.J.G., Kloosterman W.P. 24 Dec 2014, In: Cell Reports [E]. 9 , p. 2001-10 10 p.

Structural genomic variation in childhood epilepsies with complex phenotypes

Helbig I., Swinkels M.E.M., Aten E., Caliebe A., van ´t Slot R., Boor R., von Spiczak S., Muhle H., Jähn J.A., van Binsbergen E., van Nieuwenhuizen O., Jansen F.E., Braun K.P.J., de Haan G.J., Tommerup N., Stephani U., Hjalgrim H., Poot M., Lindhout D., Brilstra E.H., Møller R.S., Koeleman B.P.C. Jul 2014, In: European Journal of Human Genetics. 22 , p. 896-901 6 p.

A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis

van Binsbergen E., Ellis R.J., Abdelmalik N., Jarvis J., Randhawa K., Wyatt-Ashmead J., Canham N., Thorpe-Beeston J.G., Mancini G.M.S., van Haelst M.M. 2014, In: American Journal of Medical Genetics. Part A. 164 , p. 194-198 5 p.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Vergult S., van Binsbergen E., Sante T., Nowak S., Vanakker O, Poppe B., van der Aa N., van Roosmalen M.J., Duran K.J., Tavakoli-Yaraki M., Swinkels M.E.M., van den Boogaard M.J.H., van Haelst M.M., Roelens F., Speleman F., Cuppen E.P.J.G., Mortier G., Kloosterman W.P., Menten B. 10 Apr 2013,

Genomic rearrangements create cancer gene fusions in patients with congenital disorders

van Heesch S.A.A.C., Simonis M.J., van Roosmalen M.J., Lansu N., Braat A.K., de Luca K., Snijders S., Duran K.J., Renkens I.J., Kruisselbrink E., de Jager M., Vergult S., Menten B., de Bruijn M.E., Boymans S., Ippel P.F., van Binsbergen E., Lichtenbelt K.D., Cuppen E.P.J.G., Kloosterman W.P. 3 Mar 2013,

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Vergult S., van Binsbergen E., Sante T., Nowak S., Vanakker O, Claes K., Poppe B., van der Aa N., van Roosmalen M.J., Duran K.J., Tavakoli-Yaraki M., Swinkels M.E.M., van den Boogaard M.J.H., van Haelst M.M., Roelens F., Speleman F., Cuppen E.P.J.G., Mortier G., Kloosterman W.P., Menten B. 2013, In: European Journal of Human Genetics. 22 , p. 652-659 8 p.

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