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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: mannens mmam. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 Free PMC article.
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.
Genetic variant in CACNA1C is associated with PTSD in traumatized police officers.
Krzyzewska IM, Ensink JBM, Nawijn L, Mul AN, Koch SB, Venema A, Shankar V, Frijling JL, Veltman DJ, Lindauer RJL, Olff M, Mannens MMAM, van Zuiden M, Henneman P. Krzyzewska IM, et al. Among authors: mannens mmam. Eur J Hum Genet. 2018 Feb;26(2):247-257. doi: 10.1038/s41431-017-0059-1. Epub 2018 Jan 23. Eur J Hum Genet. 2018. PMID: 29362489 Free PMC article.
Comparing genome-scale DNA methylation and CNV marks between adult human cultured ITGA6+ testicular cells and seminomas to assess in vitro genomic stability.
Struijk RB, Dorssers LCJ, Henneman P, Rijlaarsdam MA, Venema A, Jongejan A, Mannens MMAM, Looijenga LHJ, Repping S, van Pelt AMM. Struijk RB, et al. Among authors: mannens mmam. PLoS One. 2020 Mar 16;15(3):e0230253. doi: 10.1371/journal.pone.0230253. eCollection 2020. PLoS One. 2020. PMID: 32176716 Free PMC article.
102 results