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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. Among authors: hopman sm. 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
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. Among authors: hopman sm. Neuropediatrics. 2014 Jun;45(3):137-61. doi: 10.1055/s-0034-1368116. Epub 2014 Feb 17. Neuropediatrics. 2014. PMID: 24535705 Review.
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. Among authors: hopman sm. 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. Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26508. Epub 2017 Apr 19. Pediatr Blood Cancer. 2017. PMID: 28423221
Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation.
Postema FAM, Hopman SMJ, Aalfs CM, Berger LPV, Bleeker FE, Dommering CJ, Jongmans MCJ, Letteboer TGW, Olderode-Berends MJW, Wagner A, Hennekam RC, Merks JHM. Postema FAM, et al. Among authors: hopman smj. Eur J Cancer. 2017 Jul;80:48-54. doi: 10.1016/j.ejca.2017.04.021. Epub 2017 May 23. Eur J Cancer. 2017. PMID: 28544908 Review.
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