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Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, Rump P, Houben R, van 't Slot R, de Jonge MV, Staal WG, Beemer FA, Vorstman JA, Burbach JP, van Amstel HK, Hochstenbach R, Brilstra EH, Poot M. van Daalen E, et al. Among authors: van amstel hk. Neurogenetics. 2011 Nov;12(4):315-23. doi: 10.1007/s10048-011-0297-2. Epub 2011 Aug 12. Neurogenetics. 2011. PMID: 21837366 Free PMC article.
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
de Vree PJ, de Wit E, Yilmaz M, van de Heijning M, Klous P, Verstegen MJ, Wan Y, Teunissen H, Krijger PH, Geeven G, Eijk PP, Sie D, Ylstra B, Hulsman LO, van Dooren MF, van Zutven LJ, van den Ouweland A, Verbeek S, van Dijk KW, Cornelissen M, Das AT, Berkhout B, Sikkema-Raddatz B, van den Berg E, van der Vlies P, Weening D, den Dunnen JT, Matusiak M, Lamkanfi M, Ligtenberg MJ, ter Brugge P, Jonkers J, Foekens JA, Martens JW, van der Luijt R, van Amstel HK, van Min M, Splinter E, de Laat W. de Vree PJ, et al. Among authors: van amstel hk. Nat Biotechnol. 2014 Oct;32(10):1019-25. doi: 10.1038/nbt.2959. Epub 2014 Aug 17. Nat Biotechnol. 2014. PMID: 25129690
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, Vorstman JA, van Daalen E, de Jonge MV, Verbeek NE, Brilstra EH, van 't Slot R, Ophoff RA, van Es MA, Blauw HM, Veldink JH, Buizer-Voskamp JE, Beemer FA, van den Berg LH, Wijmenga C, van Amstel HK, van Engeland H, Burbach JP, Staal WG. van der Zwaag B, et al. Among authors: van t slot r, van es ma, van engeland h, van amstel hk, van den berg lh, van daalen e. PLoS One. 2009 May 28;4(5):e5324. doi: 10.1371/journal.pone.0005324. PLoS One. 2009. PMID: 19492091 Free PMC article.
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
Vrijenhoek T, Middelburg EM, Monroe GR, van Gassen KLI, Geenen JW, Hövels AM, Knoers NV, van Amstel HKP, Frederix GWJ. Vrijenhoek T, et al. Among authors: van amstel hkp. Eur J Hum Genet. 2018 Nov;26(11):1566-1571. doi: 10.1038/s41431-018-0203-6. Epub 2018 Jun 29. Eur J Hum Genet. 2018. PMID: 29959382 Free PMC article.
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.
Hes FJ, Madan K, Rombout-Liem IS, Szuhai K, Sørensen H, van Amstel HK, Bakker E, Visser TJ, Smit JW, Hansson K. Hes FJ, et al. Among authors: van amstel hk. Am J Med Genet A. 2009 Oct;149A(10):2231-5. doi: 10.1002/ajmg.a.33004. Am J Med Genet A. 2009. PMID: 19725132
28 results