Publications
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
. . Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 ;11(2):261-9.
. Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 ;45(7):767-75.
. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 ;14:83.
. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. J Pathol. 2013 ;229(1):99-110.
. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 ;92(4):621-6.
. PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat. 2013 ;34(4):566-71.
. . Brain copy number variants and neuropsychiatric traits. Biol Psychiatry. 2012 ;72(8):617-9.
. The Drosophila melanogaster Genetic Reference Panel. Nature. 2012 ;482(7384):173-8.
. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012 ;44(8):922-7.
. MAPK target sites of eyes absent are not required for eye development or survival in Drosophila. PLoS One. 2012 ;7(12):e50776.
. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012 ;90(2):282-9.
. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 ;44(11):1249-54.
. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 ;485(7397):242-5.
. Structure, function and diversity of the healthy human microbiome. Nature. 2012 ;486(7402):207-14.
A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012 ;335(6070):823-8.
. Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. PLoS Genet. 2012 ;8(5):e1002685.
. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 ;158A(11):2917-24.
. Association studies for next-generation sequencing. Genome Res. 2011 ;21(7):1099-108.
. Evolution of pleiotropy: epistatic interaction pattern supports a mechanistic model underlying variation in genotype-phenotype map. J Exp Zool B Mol Dev Evol. 2011 ;316(5):371-85.
. Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome. Gastroenterology. 2011 ;141(5):1782-91.
. Genetical genomics of Th1 and Th2 immune response in a baboon model of atherosclerosis risk factors. Atherosclerosis. 2011 ;217(2):387-94.
.