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  1. 2020

  2. The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

    van Nisselrooij, A. E. L., Lugthart, M. A., Clur, S-A., Linskens, I. H., Pajkrt, E., Rammeloo, L. A., Rozendaal, L., Blom, N. A., van Lith, J. M. M., Knegt, A. C., Hoffer, M. J. V., Aten, E., Santen, G. W. E. & Haak, M. C., 1 Jul 2020, In: Genetics in medicine. 22, 7, p. 1206-1214 9 p.

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

  3. Prenatal sonographic features can accurately determine parental origin in triploid pregnancies

    Lugthart, M. A., Horenblas, J., Kleinrouweler, E. C., Engels, M., Knegt, A. C., Huijsdens, K., van Leeuwen, E. & Pajkrt, E., 1 May 2020, In: Prenatal diagnosis. 40, 6, p. 705-714 10 p.

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

  4. 2018

  5. An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

    Ferrer, C. M., Alders, M., Postma, A. V., Park, S., Klein, M. A., Cetinbas, M., Pajkrt, E., Glas, A., van Koningsbruggen, S., Christoffels, V. M., Mannens, M. M. A. M., Knegt, L., Etchegaray, J-P., Sadreyev, R. I., Denu, J. M., Mostoslavsky, G., van Maarle, M. C. & Mostoslavsky, R., 2018, In: Genes & development. 32, 5-6, p. 373-388

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

  6. Genetic Analyses in Small for Gestational Age Newborns

    Stalman, S. E., Solanky, N., Ishida, M., Alemán-Charlet, C., Abu-Amero, S., Alders, M., Alvizi, L., Baird, W., Demetriou, C., Henneman, P., James, C., Knegt, L. C., Leon, L. J., Mannens, M. M. A. M., Mul, A. N., Nibbering, N. A., Peskett, E., Rezwan, F. I., Ris-Stalpers, C., van der Post, J. A. M., & 6 othersKamp, G. A., Plötz, F. B., Wit, J. M., Stanier, P., Moore, G. E. & Hennekam, R. C., 2018, In: Journal of clinical endocrinology and metabolism. 103, 3, p. 917-925

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

  7. Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

    Huijsdens–van Amsterdam, K., Straver, R., van Maarle, M. C., Knegt, A. C., van Opstal, D., Sleutels, F., Smeets, D. & Sistermans, E. A., 2018, In: Genetics in medicine. 20, 11, p. 1472-1476

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

  8. Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates

    Henneman, P., Bouman, A., Mul, A., Knegt, L., van der Kevie-Kersemaekers, A-M., Zwaveling-Soonawala, N., Meijers-Heijboer, H. E. J., Paul van Trotsenburg, A. S. & Mannens, M. M., 2018, In: PLoS ONE. 13, 3, e0194938.

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

  9. 2017

  10. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

    Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., & 13 othersMarshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A. & AUTHOR GROUP, 2017, In: Molecular psychiatry. 22, 6, p. 836-849

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

  11. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

    van Kuilenburg, A. B. P., Meijer, J., Mauer, D., Dobritzsch, D., Meinsma, R., Los, M., Knegt, L. C., Zoetekouw, L., Jansen, R. L. H., Dezentjé, V., van Huis-Tanja, L. H., van Kampen, R. J. W., Hertz, J. M. & Hennekam, R. C. M., 2017, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1863, 3, p. 721-730

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

  12. 2016

  13. Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects

    Jansen, F. A. R., Hoffer, M. J. V., van Velzen, C. L., Plati, S. K., Rijlaarsdam, M. E. B., Clur, S-A. B., Blom, N. A., Pajkrt, E., Bhola, S. L., Knegt, A. C., de Boer, M. A. & Haak, M. C., 2016, In: Prenatal diagnosis. 36, 2, p. 177-185

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

  14. Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia

    van Koningsbruggen, S., Knoester, H., Bakx, R., Mook, O., Knegt, L. & Cobben, J. M., 2016, In: American journal of medical genetics. Part A. 170AA, 2, p. 510-514

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

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