academic article

• 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.