- Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. American Journal of Human Genetics. 2016 Academic Article GET IT
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
American Journal of Medical Genetics, Part A.
Times cited: 52