Anne Turner

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Marcel E Dinger, Michael Field, Velimir Gayevskiy, 2018, Genetics in Medicine.