Publications
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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015 ;17(4):262-70.
. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 ;167A(4):831-6.
. Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations. Cancer Res. 2015 ;75(24):5341-54.
. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015 ;56(3):1937-46.
. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab. 2014 ;99(11):E2451-6.
. Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. Genome Res. 2014 ;24(11):1740-50.
. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
. A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 ;56(1):150-5.
. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 ;55(11):7159-64.
. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 ;26(3):319-330.
. Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers. Clin Cancer Res. 2014 ;20(14):3842-8.
. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet. 2014 ;46(12):1267-73.
. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 ;164A(9):2328-34.
. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 ;93(2):357-67.
. Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 ;11(2):261-9.
. Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature. 2013 ;499(7456):43-9.
Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease. Sci China Life Sci. 2013 ;56(2):125-33.
. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 ;497(7447):67-73.
. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 ;70(12):1491-8.
. Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution. J Mol Biol. 2012 ;424(3-4):150-67.
. . Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 ;204(1):19-25.
. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 ;32(12):1450-9.
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