Research
Genomic analysis of primordial dwarfism reveals novel disease genes
- First Published January 3, 2014
Research
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
- First Published October 26, 2012
Research
XIST locus" > Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus
- First Published April 25, 2011
Method
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
- First Published September 1, 2010
Resource
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
- First Published July 14, 2009
LETTER
Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event
- First Published October 24, 2008
ARTICLE
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
- First Published June 13, 2007