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Page 1
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG. Croonen EA, et al. Among authors: ruiterkamp versteeg m. Eur J Hum Genet. 2013 Sep;21(9):936-42. doi: 10.1038/ejhg.2012.285. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321623 Free PMC article.
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N. Jongmans MC, et al. Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773. Genes Chromosomes Cancer. 2010. PMID: 20461756
Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: ruiterkamp versteeg m. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395478 Free PMC article.
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.
Mundhofir FE, Nillesen WM, Van Bon BW, Smeets D, Pfundt R, van de Ven-Schobers G, Ruiterkamp-Versteeg M, Winarni TI, Hamel BC, Yntema HG, Faradz SM. Mundhofir FE, et al. Among authors: ruiterkamp versteeg m. Indian J Hum Genet. 2013 Apr;19(2):171-8. doi: 10.4103/0971-6866.116118. Indian J Hum Genet. 2013. PMID: 24019618 Free PMC article.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, Vissers LELM. van der Sanden BPGH, et al. Among authors: ruiterkamp versteeg m. Eur J Hum Genet. 2023 Jan;31(1):81-88. doi: 10.1038/s41431-022-01185-9. Epub 2022 Sep 16. Eur J Hum Genet. 2023. PMID: 36114283 Free PMC article.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KLI, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EMC, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T. Kummeling J, et al. Among authors: ruiterkamp versteeg m. Mol Psychiatry. 2021 Jun;26(6):2013-2024. doi: 10.1038/s41380-020-0725-5. Epub 2020 Apr 28. Mol Psychiatry. 2021. PMID: 32346159
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
de Koning MA, Pimienta Ramirez PA, Haak MC, Han X, Ruiterkamp-Versteeg MH, de Leeuw N, Schatz UA, Shoukier M, Rieger-Fackeldey E, Ortiz JU, van Duinen SG, Klein WM, Witlox RSGM, Finnell RH, Santen GWE, Lei Y, Suerink M. de Koning MA, et al. Among authors: ruiterkamp versteeg mh. J Med Genet. 2024 May 21;61(6):549-552. doi: 10.1136/jmg-2023-109698. J Med Genet. 2024. PMID: 38272662
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite AJDC, Pinto IP, Leijsten N, Ruiterkamp-Versteeg M, Pfundt R, de Leeuw N, da Cruz AD, Minasi LB. Leite AJDC, et al. Among authors: ruiterkamp versteeg m. PLoS One. 2022 Apr 7;17(4):e0266493. doi: 10.1371/journal.pone.0266493. eCollection 2022. PLoS One. 2022. PMID: 35390071 Free PMC article.
13 results