Publications
Characterization of the rat GRIK5 kainate receptor subunit gene promoter and its intragenic regions involved in neural cell specificity. J Biol Chem. 2001 ;276(45):42162-71.
. CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes. Sci Rep. 2015 ;5:8366.
. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006 ;99(6):646-55.
. Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4. Development. 2003 ;130(19):4539-52.
. Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 ;420(6915):520-62.
. Isolation and characterization of the platelet-derived growth factor beta receptor promoter. Dev Dyn. 1997 ;208(2):211-9.
. l7Rn6 encodes a novel protein required for clara cell function in mouse lung development. Genetics. 2006 ;172(1):389-99.
. Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry. 2020 ;25(2):476-490.
. Notch activation as a driver of osteogenic sarcoma. Cancer Cell. 2014 ;26(3):390-401.
. Orphan nuclear receptor GCNF is required for the repression of pluripotency genes during retinoic acid-induced embryonic stem cell differentiation. Mol Cell Biol. 2005 ;25(19):8507-19.
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