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Page 1
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. Komatsuzaki S, et al. J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30. J Hum Genet. 2010. PMID: 20882035
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH. Hopman SM, et al. Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628360
Face shape differs in phylogenetically related populations.
Hopman SM, Merks JH, Suttie M, Hennekam RC, Hammond P. Hopman SM, et al. Eur J Hum Genet. 2014 Nov;22(11):1268-71. doi: 10.1038/ejhg.2013.289. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398794 Free PMC article.
Brain tumors and syndromes in children.
Bleeker FE, Hopman SM, Merks JH, Aalfs CM, Hennekam RC. Bleeker FE, et al. Neuropediatrics. 2014 Jun;45(3):137-61. doi: 10.1055/s-0034-1368116. Epub 2014 Feb 17. Neuropediatrics. 2014. PMID: 24535705 Review.
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock L, Wang YC, Revil T, Badescu D, Rivera B, Sabbaghian N, Wu M, Weber E, Sandoval C, Hopman SM, Merks JH, van Hagen JM, Bouts AH, Plager DA, Ramasubramanian A, Forsmark L, Doyle KL, Toler T, Callahan J, Engelenberg C, Bouron-Dal Soglio D, Priest JR, Ragoussis J, Foulkes WD. de Kock L, et al. J Med Genet. 2016 Jan;53(1):43-52. doi: 10.1136/jmedgenet-2015-103428. Epub 2015 Oct 16. J Med Genet. 2016. PMID: 26475046
Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
Postema FA, Hopman SM, de Borgie CA, Hammond P, Hennekam RC, Merks JH; TuPS study group; Aalfs CM, Anninga JK, Berger LP, Bleeker FE, de Bont ES, de Borgie CA, Dommering CJ, van Eijkelenburg NK, Hammond P, Hennekam RC, van den Heuvel-Eibrink MM, Hopman SM, Jongmans MC, Kors WA, Letteboer TG, Loeffen JL, Merks JH, Olderode-Berends MJ, Postema FA, Wagner A; TuPS study group. Postema FA, et al. BMJ Open. 2017 Jan 20;7(1):e013237. doi: 10.1136/bmjopen-2016-013237. BMJ Open. 2017. PMID: 28110285 Free PMC article.
Facial asymmetry in head and neck rhabdomyosarcoma survivors.
Schoot RA, Hol MLF, Merks JHM, Suttie M, Slater O, van Lennep M, Hopman SMJ, Dunaway D, Syme-Grant J, Smeele LE, Zwinderman KH, Caron HN, Hammond P. Schoot RA, et al. Among authors: hopman smj. Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26508. Epub 2017 Apr 19. Pediatr Blood Cancer. 2017. PMID: 28423221
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