Mary-Louise Freckmann

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.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Christian R Marshall, Alexandre Reymond, Paige Kaplan, 2008, American journal of human genetics.