academic article

• Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences..  NPJ genomic medicine.  1:-. 2016
• Renal systems biology of patients with systemic inflammatory response syndrome..  Kidney international.  :-. 2015
• Alström Syndrome: Mutation Spectrum of ALMS1..  Human mutation.  :-. 2015
• A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases..  Genome medicine.  7:-. 2015
• Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders..  Science translational medicine.  6:-. 2014
• A Novel Compound-Heterozygous EpCAM Mutation in Tufting Enteropathy..  Journal of pediatric gastroenterology and nutrition.  :-. 2014
• Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 2014
• 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 transcriptome and expressed variant analysis of sepsis survival and death..  Genome medicine.  6:-. 2014
• Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients..  Clinical immunology (Orlando, Fla.).  152:164-170. 2014
• Utility of next generation sequencing in clinical primary immunodeficiencies..  Current allergy and asthma reports.  14:-. 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
• 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
• Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum. 2008
• Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing..  Genomics.  102:442-447.