Elaine H. Zackai

机构：Children's Hospital of Philadelphia, University of Pennsylvania · ORCID：0000-0002-8002-893X

发表论文 1092 篇 · 总被引 50797 次 · h-index 113

代表论文

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2023 · Journal of Clinical Investigation · 被引 46)
Anesthesia and Sedation Exposure and Neurodevelopmental Outcomes in Infants Undergoing Congenital Cardiac Surgery: A Retrospective Cohort Study (2023 · Anesthesiology · 被引 32)
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes (2024 · The American Journal of Human Genetics · 被引 29)
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants (2024 · Genetics in Medicine · 被引 27)
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays (2023 · European Journal of Human Genetics · 被引 26)
Risk of meningomyelocele mediated by the common 22q11.2 deletion (2024 · Science · 被引 22)