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Page 1
Clinical applications of cell-free fetal DNA from maternal plasma.
Rijnders RJ, Christiaens GC, Bossers B, van der Smagt JJ, van der Schoot CE, de Haas M. Rijnders RJ, et al. Among authors: van der schoot ce, van der smagt jj. Obstet Gynecol. 2004 Jan;103(1):157-64. doi: 10.1097/01.AOG.0000103996.44503.F1. Obstet Gynecol. 2004. PMID: 14704260
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.
Hes FJ, McKee S, Taphoorn MJ, Rehal P, van Der Luijt RB, McMahon R, van Der Smagt JJ, Dow D, Zewald RA, Whittaker J, Lips CJ, MacDonald F, Pearson PL, Maher ER. Hes FJ, et al. Among authors: van der smagt jj, van der luijt rb. J Med Genet. 2000 Dec;37(12):939-43. doi: 10.1136/jmg.37.12.939. J Med Genet. 2000. PMID: 11106358 Free PMC article.
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. McKie AB, et al. Among authors: van haaften g, van der smagt jj. Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0. Acta Neuropathol Commun. 2014. PMID: 25476234 Free PMC article.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Among authors: van der smagt jj, van gassen kl. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Muir AM, et al. Among authors: van der smagt jj. Genet Med. 2021 May;23(5):881-887. doi: 10.1038/s41436-020-01076-8. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473207 Free PMC article.
Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.
Cosgun B, Reinders MGHC, van Geel M, Steijlen PM, van Hout AFW, Leter EM, van der Smagt JJ, van Hagen JM, Berger LPV, Kets CM, Wagner A, Aalfs CM, Hes FJ, van der Kolk LE, Gille JJP, Mosterd K. Cosgun B, et al. Among authors: van hout afw, van der smagt jj, van hagen jm, van geel m, van der kolk le. J Am Acad Dermatol. 2020 Aug;83(2):604-607. doi: 10.1016/j.jaad.2019.07.072. Epub 2019 Jul 30. J Am Acad Dermatol. 2020. PMID: 31374299 No abstract available.
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers IC, Dooijes D, Vonken EP, van der Smagt JJ, Knoers NV, Koenen SV, van Herwaarden JA, Sieswerda GT. Baas AF, et al. Among authors: van herwaarden ja, van der smagt jj. Am J Med Genet A. 2017 Feb;173(2):519-523. doi: 10.1002/ajmg.a.38033. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 28102592
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: van haelst mm, van der smagt jj. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Haplotype sharing test maps genes for familial cardiomyopathies.
van der Zwaag PA, van Tintelen JP, Gerbens F, Jongbloed JD, Boven LG, van der Smagt JJ, van der Roest WP, van Langen IM, Bikker H, Hauer RN, van den Berg MP, Hofstra RM, te Meerman GJ. van der Zwaag PA, et al. Among authors: van der roest wp, van den berg mp, van langen im, van der smagt jj, van tintelen jp. Clin Genet. 2011 May;79(5):459-67. doi: 10.1111/j.1399-0004.2010.01472.x. Clin Genet. 2011. PMID: 20573160
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: van haelst mm, van lieshout s, van haaften g, van der smagt jj, van harssel jj, van der heyden ma. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
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