selected publications
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academic article
- A Novel Variant in the STAT3 Gene Associated with Autoimmune Enteropathy in a Father–Son Duo. Journal of Genomes and Exomes. 3:1-5. 2014
- 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
- 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
- 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