Generic Portal

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31

Bouman, A., Knegt, L., Gröschel, S., Erpelinck, C., Sanders, M., Delwel, R., Kuijpers, T. & Cobben, J. M., 2016, In: American journal of medical genetics. Part A. 170AA, 2, p. 504-509

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

Trisomy 4 mosaicism: Delineation of the phenotype

Bouman, A., van der Kevie-Kersemaekers, A-M., Huijsdens-van Amsterdam, K., Dahhan, N., Knegt, L., Vansenne, F. & Cobben, J. M., 2016, In: American journal of medical genetics. Part A. 170AA, 4, p. 1040-1045

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

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Hagen, J., te Brinke, H., Wanders, R. J. A., Knegt, A. C., Oussoren, E., Hoogeboom, A. J. M., Ruijter, G. J. G., Becker, D., Schwab, K. O., Franke, I., Duran, M., Waterham, H. R., Sass, J. O. & Houten, S. M., 2015, In: Journal of inherited metabolic disease. 38, 5, p. 873-879

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

Maternale uniparentale disomie 14. In de differentiaaldiagnose bij Prader-Willi-syndroom

Tamminga, S., Stalman, S. E., Kamp, G. A., Hendriks, Y. M. C., Knegt, A. C. L. & Elting, M. W. M., 2015, In: Nederlands tijdschrift voor geneeskunde. 159, p. A8240

Research output: Contribution to journal › Article › Professional

15q26-microdeletio-szindróma

Szakszon, K., Ujfalusi, A., Balogh, E., Mogyorósy, G., Felszeghy, E., Szilvássy, J., Horkay, E., Berényi, E., Merő, G. & Knegt, A. C., 2014, In: Orvosi hetilap. 155, 9, p. 362-364

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

Genomic and functional overlap between somatic and germline chromosomal rearrangements

van Heesch, S., Simonis, M., van Roosmalen, M. J., Pillalamarri, V., 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., Alekozai, N., Jager, M., & 10 othersVergult, S., Menten, B., de Bruijn, E., Boymans, S., Ippel, E., van Binsbergen, E., Talkowski, M. E., Lichtenbelt, K., Cuppen, E. & Kloosterman, W. P., 2014, In: Cell reports. 9, 6, p. 2001-2010

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

Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009)

Siljee, J. E., Knegt, A. C., Knapen, M. F. C. M., Bekker, M. N., Visser, G. H. A. & Schielen, P. C. J. I., 2014, In: Prenatal diagnosis. 34, 3, p. 259-264

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

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Møller, R. S., Jensen, L. R., maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., & 11 othersKnegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z. & Kleefstra, T., 2014, In: Human genetics. 133, 5, p. 625-638

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

6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

Writzl, K. & Knegt, A. C., 2013, In: American journal of medical genetics. Part A. 161A, 7, p. 1682-1685

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

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association

Bessenyei, B., Nagy, A., Balogh, E., Novák, L., Bognár, L., Knegt, A. C. & Oláh, E., 2013, In: American journal of medical genetics. Part A. 161, 10, p. 2641-2644

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