Elizabeth K. Ruzzo
University of California, Los Angeles(US)Center for Autism and Related Disorders(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders
Most-Cited Works
- → A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation(2019)558 cited
- → Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks(2019)487 cited
- → Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios(2015)338 cited
- → Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes(2012)176 cited
- → Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy(2013)165 cited
- → Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis(2012)164 cited
- → The Characterization of Twenty Sequenced Human Genomes