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Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castañer JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yagüe J, Mirakian RM, Hitman GA, McDermott MF. Aganna E, et al. Among authors: van amstel hk. Arthritis Rheum. 2003 Sep;48(9):2632-44. doi: 10.1002/art.11215. Arthritis Rheum. 2003. PMID: 13130484
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Hitzert MM, van der Crabben SN, Baldewsingh G, van Amstel HKP, van den Wijngaard A, van Ravenswaaij-Arts CMA, Zijlmans CWR. Hitzert MM, et al. Among authors: van amstel hkp. Orphanet J Rare Dis. 2019 Dec 19;14(1):294. doi: 10.1186/s13023-019-1269-0. Orphanet J Rare Dis. 2019. PMID: 31856865 Free PMC article.
Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.
Cooiman MI, Kleinendorst L, Aarts EO, Janssen IMC, van Amstel HKP, Blakemore AI, Hazebroek EJ, Meijers-Heijboer HJ, van der Zwaag B, Berends FJ, van Haelst MM. Cooiman MI, et al. Among authors: van amstel hkp. Obes Surg. 2020 Feb;30(2):470-477. doi: 10.1007/s11695-019-04184-w. Obes Surg. 2020. PMID: 31650404
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.
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
[Stuttering: effects of genes and early treatment].
Bast EJ, van Amstel HK, Franken MC. Bast EJ, et al. Among authors: van amstel hk. Ned Tijdschr Geneeskd. 2011;155(42):A3514. Ned Tijdschr Geneeskd. 2011. PMID: 22027460 Review. Dutch.
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.
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV, Verbeek NE, van 't Slot R, van Es MA, Staal FJ, Freitag CM, Buizer-Voskamp JE, Nelen MR, van den Berg LH, van Amstel HK, van Engeland H, Burbach JP. van der Zwaag B, et al. Among authors: van amstel hk. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):960-6. doi: 10.1002/ajmg.b.31055. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20029941 Free PMC article.
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