Martijn H Breuning

Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, whereas Wnt Signaling Remains Unaffected*

Marc van de Wetering, Ngoc Hang Le, Paola van der Bent, 2004, Journal of Biological Chemistry.

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Christian Gilissen, Martijn H Breuning, Marjolein Kriek, 2012, Nature Genetics.

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Ana Cvejic, Panos Deloukas, Matthew E Hurles, 2012, Nature Genetics.

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.

Martijn H Breuning, Christopher J Ward, Dorien J M Peters, 2004, Human molecular genetics.

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

Johan T den Dunnen, Martijn H Breuning, Michel P. Villerius, 2002, American journal of human genetics.

Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways.

Bob van de Water, Martijn H Breuning, Dorien J M Peters, 2009, Human molecular genetics.

Deep sequencing to reveal new variants in pooled DNA samples

Detlef Weigel, Johan T den Dunnen, Jelle J Goeman, 2009, Human mutation.

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Johan T den Dunnen, Martijn H Breuning, Dorien J M Peters, 2005, American journal of human genetics.