drs. K. (Katelijne) Bouman

Clinical Geneticist

Faculty of Medical Sciences

Telephone:

E-mail:

k.bouman umcg.nl

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Publications

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Corsten-Janssen, N. , Bouman, K. , Diphoorn, J. C. D. , Scheper, A. J., Kinds, R., El Mecky, J. , Breet, H. , Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K. , Manten, G. T. R., van Langen, I. M. , Sijmons, R. H. , Sikkema-Raddatz, B. , Westers, H. & van Diemen, C. C. , Sep-2020 , In: Prenatal Diagnosis. 40 , 10 , p. 1300-1309 24 p.

Research output: Contribution to journal › Article › Academic › peer-review

Lessons learned from rapid Exome Sequencing(rES)as a standard diagnostic test in a prenatal setting for fetuses with ultrasound abnormalities.

Corsten-Janssen, N. , Bouman, K. , Scheper, A. J., Meems-Veldhuis, M. T., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K. , Manten, G. T. R., van Langen, I. M. , Sikkema-Raddatz, B. , Westers, H. & van Diemen, C. C. , Dec-2020 , In: European Journal of Human Genetics. 28 , SUPPL 1 , p. 169-170 2 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Parental experiences of rapid Exome Sequencing in case of serious ultrasound abnormalities during pregnancy

Plantinga, M. , Zwienenberg, L. , van Dijk, E., Breet, H. , Diphoorn, J. , el Mecky, J. , Bouman, K. , Verheij, J., Ranchor, A. , Corsten-Janssen, N. & van Langen, I. , Dec-2020 , In: European Journal of Human Genetics. 28 , SUPPL 1 , p. 172-172 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Clinical implementation of diagnostic whole exome sequencing for fetal multiple congenital anomalies on ultrasound

Corsten-Janssen, N. , Diphoorn, J. C. D. , Bouman, K. , El Mecky, J. , Verheij, J. B. G. M., Kerstjens, W. S. , Scheper, A., Kinds, R., van Langen, I. M. , Sinke, R. J. , Sijmons, R. H. , Sikkema-Raddatz, B. , Westers, H. & van Diemen, C. C. , Oct-2019 , In: European Journal of Human Genetics. 27 , p. 1213-1213 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Implementing fast whole exome sequencing sequencing as diagnostic test for fetal multiple congenital anomalies on ultrasound

Corsten-Janssen, N. , el Mecky, J. , Bouman, K. , Vos, Y. J. , Verheij, J. B. G. M., Westers, H., Kinds, R., Scheper, A. J., Sikkema-Raddatz, B. , Sinke, R. J. , van Langen, I. M. , Sijmons, R. H. & van Diemen, C. C. , Jul-2019 , In: European Journal of Human Genetics. 27 , p. 540-540 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Friederich, M. W., Timal, S., Powell, C. A., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., Bratkovic, D., Derks, T. G. J. , Bick, D., Bouman, K. , Chatfield, K. C., Damouny-Naoum, N., Dishop, M. K., Falik-Zaccai, T. C., Fares, F., Fedida, A., Ferrero, I., Gallagher, R. C., Garesse, R., Gilberti, M.& 30 others , Gonzalez, C., Gowan, K., Habib, C., Halligan, R. K., Kalfon, L., Knight, K., Lefeber, D., Mamblona, L., Mandel, H., Mory, A., Ottoson, J., Paperna, T., Pruijn, G. J. M., Rebelo-Guiomar, P. F., Saada, A., Sainz, B., Salvemini, H., Schoots, M. H. , Smeitink, J. A., Szukszto, M. J., ter Horst, H. J., van den Brandt, F., van Spronsen, F. J. , Veltman, J. A., Wartchow, E., Wintjes, L. T., Zohar, Y., Fernandez-Moreno, M. A., Baris, H. N. & Donnini, C. , 3-Oct-2018 , In: Nature Communications. 9 , 1 , 14 p. , 4065.

Research output: Contribution to journal › Article › Academic › peer-review

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

Heijligers, M., van Montfoort, A., Meijer-Hoogeveen, M., Broekmans, F., Bouman, K. , Homminga, I., Dreesen, J., Paulussen, A., Engelen, J., Coonen, E., van der Schoot, V., van Deursen-Luijten, M., Muntjewerff, N., Peeters, A., van Golde, R., van der Hoeven, M., Arens, Y. & de Die-Smulders, C., Nov-2018 , In: Journal of Assisted Reproduction and Genetics. 35 , 11 , p. 1995-2002 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Perinatal death investigations: What is current practice?

Nijkamp, J. W., Sebire, N. J., Bouman, K. , Korteweg, F. J., Erwich, J. J. H. M. & Gordijn, S. J. , Jun-2017 , In: Seminars in fetal & neonatal medicine. 22 , 3 , p. 167-175 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: Findings from a large European cohort

Groen, H. , Bouman, K. , Pierini, A., Rankin, J., Rissmann, A., Haeusler, M., Yevtushok, L., Loane, M., Erwich, J. J. H. M. & de Walle, H. E. K. , Nov-2017 , In: Prenatal Diagnosis. 37 , 11 , p. 1100-1111 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

Bouman, K. , Bakker, M. K. , Birnie, E. , ter Beek, L. , Bilardo, C. M. , van Langen, I. M. & de Walle, H. E. K. , 5-Jan-2017 , In: BMC Pregnancy and Childbirth. 17 , 1 , 8 p. , 4.

Research output: Contribution to journal › Article › Academic › peer-review

All (37) publications

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