Etchevers, Heather C.

Top Publications

Top Publications Authored or Co-Authored by "Etchevers, Heather C."

• Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

  Nature Genetics, Volume 39, No. 4, Year 2007, Citations 196
• High-throughput sequencing of a 4.1Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

  Human Mutation, Volume 31, No. 10, Year 2010, Citations 32
• A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

  Genetics Research, Year 2019, Citations 14
• Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

  Investigative Ophthalmology and Visual Science, Volume 51, No. 9, Year 2010, Citations 7