selected publications
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academic article
- Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 2019
- Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.. American journal of epidemiology. 188:1033-1054. 2019
- Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 2018
- Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.. NPJ genomic medicine. 1:-. 2016
- An integrated clinico-metabolomic model improves prediction of death in sepsis.. Science translational medicine. 5:-. 2013
- De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.. BMC medical genomics. 6:-. 2013
- Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.. Genomics. 102:148-156. 2013
- Genome sequencing and mapping reveal loss of heterozygosity as a mechanism for rapid adaptation in the vegetable pathogen Phytophthora capsici.. Molecular plant-microbe interactions : MPMI. 25:1350-1360. 2012
- Next-generation community genetics for low- and middle-income countries.. Genome medicine. 4:-. 2012
- Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.. Expert review of molecular diagnostics. 11:855-868. 2011
- Carrier testing for severe childhood recessive diseases by next-generation sequencing.. Science translational medicine. 3:-. 2011
- Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.. Genomics. 102:442-447.
- Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.. The Journal of allergy and clinical immunology. 594-7.e1-3. 2013
- Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.. Blood. 3185-3187. 2012