Lynne Ierardi-Curto

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

Case report · American Journal of Medical Genetics Part A · 2018 · 31 citations

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Proceedings of the National Academy of Sciences of the United States of America · 2019 · 29 citations