academic article

• Heart disease in Friedreich's ataxia..  World journal of cardiology.  11:1-12. 2019
• Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences..  NPJ genomic medicine.  1:-. 2016
• 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
• 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
• CAM education: promoting a salutogenic focus in health care..  Journal of alternative and complementary medicine (New York, N.Y.).  14:87-93. 2008