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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, Cuppen E. Kloosterman WP, et al. Among authors: ippel ef. Cell Rep. 2012 Jun 28;1(6):648-55. doi: 10.1016/j.celrep.2012.05.009. Epub 2012 Jun 15. Cell Rep. 2012. PMID: 22813740 Free article.
Genomic and functional overlap between somatic and germline chromosomal rearrangements.
van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP. van Heesch S, et al. Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11. Cell Rep. 2014. PMID: 25497101 Free article.
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Middelkamp S, van Heesch S, Braat AK, de Ligt J, van Iterson M, Simonis M, van Roosmalen MJ, Kelder MJ, Kruisselbrink E, Hochstenbach R, Verbeek NE, Ippel EF, Adolfs Y, Pasterkamp RJ, Kloosterman WP, Kuijk EW, Cuppen E. Middelkamp S, et al. Among authors: ippel ef. Genome Med. 2017 Jan 26;9(1):9. doi: 10.1186/s13073-017-0399-z. Genome Med. 2017. PMID: 28126037 Free PMC article.
Clinical and genetic heterogeneity in benign hereditary chorea.
Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WF. Breedveld GJ, et al. Among authors: ippel ef. Neurology. 2002 Aug 27;59(4):579-84. doi: 10.1212/wnl.59.4.579. Neurology. 2002. PMID: 12196653
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
Wokke JH, Ausems MG, van den Boogaard MJ, Ippel EF, van Diggelene O, Kroos MA, Boer M, Jennekens FG, Reuser AJ, Ploos van Amstel HK. Wokke JH, et al. Among authors: ippel ef. Ann Neurol. 1995 Sep;38(3):450-4. doi: 10.1002/ana.410380316. Ann Neurol. 1995. PMID: 7668832 Free article.
15 results