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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M. Kuschal C, et al. Among authors: keymolen k. Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996949 Free PMC article.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. Barbé L, et al. Among authors: keymolen k. Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033. Am J Hum Genet. 2017. PMID: 28257691 Free PMC article.
Early onset Huntington disease: a neuronal degeneration syndrome.
Seneca S, Fagnart D, Keymolen K, Lissens W, Hasaerts D, Debulpaep S, Desprechins B, Liebaers I, De Meirleir L. Seneca S, et al. Among authors: keymolen k. Eur J Pediatr. 2004 Dec;163(12):717-21. doi: 10.1007/s00431-004-1537-3. Eur J Pediatr. 2004. PMID: 15338298
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.
Beyens A, Van De Voorde S, Guerreiro Santano Ramos Da Silva M, De Meulemeester S, Devriendt K, Goeteyn M, Janssens S, Kooy RF, Rosseel T, Symoens S, Hes FJ, Keymolen K, Dimitrov B, Callewaert B. Beyens A, et al. Among authors: keymolen k. Clin Genet. 2025 May;107(5):579-581. doi: 10.1111/cge.14705. Epub 2025 Jan 19. Clin Genet. 2025. PMID: 39828664
95 results