High-ranking Publications

• Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29. doi: 10.1038/ng.2262.
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• Stein JL, Medland SE, .. ... , Franke B, Wright MJ, Thompson PM. Identification
  of common variants associated with human hippocampal and intracranial volumes.
  Nat Genet. 2012 Apr 15. doi: 10.1038/ng.2250.
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• Bis JC, Decarli C, ..... Franke B, .... van der Lugt A, ..., Ikram MA, Seshadri S. Common variants at 12q14 and 12q24 are associated with hippocampal volume.
  Nat Genet. 2012 Apr 15. doi: 10.1038/ng.2237.
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• Werner J.H. Koopman, Peter H.G.M. Willems, Jan A.M. Smeitink. Monogenic Mitochondrial Disorders. New England Journal of Medicine 2012;366:1132-41.
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• Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, Stanislav S Kholmanskikh, Brian J O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T Sullivan, Susan L Christian, Omar A Abdul-Rahman, Joan F Atkin, Nicolas Chassaing, Valerie Drouin-Garraud, Andrew E Fry, Jean-Pierre Fryns, Karen W Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M S Mancini, Małgorzata J M Nowaczyk, Conny M A van Ravenswaaij-Arts, Tony Roscioli, Michael Marble, Jill A Rosenfeld, Victoria M Siu, Bert B A de Vries, Jay Shendure, Alain Verloes, Joris A Veltman, Han G Brunner, M Elizabeth Ross, Daniela T Pilz & William B Dobyns. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics.
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