Publications
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 16, 286 (2015).
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr 59, 17-21 (2014).