Publications 2012
De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome.
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.Am J Hum Genet. 2012 Jan 18. [Epub ahead of print]
Disease gene identification strategies for exome sequencing. Gilissen C, Hoischen A, Brunner HG, Veltman JA.
Eur J Hum Genet. 2012 Jan 18. doi: 10.1038/ejhg.2011.258. [Epub ahead of print]
Structural genomic variation in intellectual disability. Pfundt R, Veltman JA.
Methods Mol Biol. 2012;838:77-95.
Microdeletion and microduplication syndromes. Vissers LE, Stankiewicz P.
Methods Mol Biol. 2012;838:29-75.
Amplified segment in the 'Down Syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2. Canzonetta C, Hoischen A, Giarin E, Basso G, Veltman JA, Nacheva E, Nizetic D,
Groet J.
Br J Haematol. 2012 Jan 5. doi: 10.1111/j.1365-2141.2011.08985.x. [Epub ahead of print]