Research output per year
Research output per year
Search results
-
2020
Population-based preconception expanded carrier screening for severe recessive disorders: Does a GP-provided test offer with couple results meet criteria for responsible implementation?
Schuurmans, J., Plantinga, M., Birnie, E., Abbott, K. M., Diemers, A. D., Van der Kolk, D. M., Van den Heuvel, L. M., Berger, M. Y., Verkerk, M., Fenwick, A., Ranchor, A. V., Lucassen, A. & Van Langen, I. M., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 153-153 1 p.Research output: Contribution to journal › Meeting Abstract › Academic
-
2019
NGS expanded carrier screening in the Netherlands: initial implementation results
Abbott, K. M., Dijkhuizen, T., Veldhuis, M., Schuurmans, J., van Langen, I. & Sinke, R. J., Jul-2019, In: European Journal of Human Genetics. 27, p. 13-13 1 p.Research output: Contribution to journal › Meeting Abstract › Academic
-
Short and long-term psychological impact of an active GP-provided couple-based ECS test-offer in the Dutch general population
Schuurmans, J., Plantinga, M., Lucassen, A., Fenwick, A., Abbott, K., Birnie, E., van Langen, I. & Ranchor, A., Jul-2019, In: European Journal of Human Genetics. 27, p. 709-709 1 p.Research output: Contribution to journal › Meeting Abstract › Academic
-
2017
A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients
Herkert, J. C., Abbott, K. M., Birnie, E., Meems-Veldhuis, M. T., Boven, L. G., Benjamins, M., Sarvaas, G. J. D. M., Barge-Schaapveld, D. Q., van Tintelen, J. P., van der Zwaag, P. A., Vos, Y. J., Sinke, R. J., van den Berg, M. P., van Langen, I. M. & Jongbloed, J. D., 14-Nov-2017, In: Circulation. 136, 2 p., A18198.Research output: Contribution to journal › Meeting Abstract › Academic
-
2013
Resolving Variants of Unknown Significance Through Large-Scale RNA-seq
Zhernakova, D., Deelen, P., van der Sijde, M., van der Velde, J., de Haan, M., Abbott, K., Wijmenga, C., Sinke, R., Swertz, M., Fu, J. & Franke, L., 2013, In: Human heredity. 76, 2, p. 106-107 2 p.Research output: Contribution to journal › Meeting Abstract › Academic