Elysa J. Marco

机构：NeuroDevelopment Center, Marin Health and Human Services

发表论文 21 篇 · 总被引 1133 次 · h-index 11

代表论文

• Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 (2009 · The American Journal of Human Genetics · 被引 362)
• 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort (2016 · American Journal of Medical Genetics Part A · 被引 229)
• Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study (2018 · Biological Psychiatry · 被引 91)
• Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications (2016 · Human Brain Mapping · 被引 83)
• De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome (2017 · The American Journal of Human Genetics · 被引 78)
• ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal (2007 · Journal of Medical Genetics · 被引 70)