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410 results
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Santen GW, et al. Among authors: van haeringen a, van ommen gj. Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217. Nat Genet. 2012. PMID: 22426309
The Pathogenesis and Therapy of Muscular Dystrophies.
Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. Guiraud S, et al. Among authors: van ommen gj. Annu Rev Genomics Hum Genet. 2015;16:281-308. doi: 10.1146/annurev-genom-090314-025003. Epub 2015 Jun 4. Annu Rev Genomics Hum Genet. 2015. PMID: 26048046 Review.
Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody.
Verheesen P, de Kluijver A, van Koningsbruggen S, de Brij M, de Haard HJ, van Ommen GJ, van der Maarel SM, Verrips CT. Verheesen P, et al. Among authors: van der maarel sm, van ommen gj, van koningsbruggen s. Hum Mol Genet. 2006 Jan 1;15(1):105-11. doi: 10.1093/hmg/ddi432. Epub 2005 Nov 30. Hum Mol Genet. 2006. PMID: 16319127
Deep sequencing to reveal new variants in pooled DNA samples.
Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P, Hes FJ. Out AA, et al. Among authors: van minderhout ij, van ommen gj, van galen m. Hum Mutat. 2009 Dec;30(12):1703-12. doi: 10.1002/humu.21122. Hum Mutat. 2009. PMID: 19842214
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