Julie S. Cohen

机构：Kennedy Krieger Institute, Johns Hopkins University, Johns Hopkins Medicine

发表论文 123 篇 · 总被引 3929 次 · h-index 38

代表论文

• Mondo: integrating disease terminology across communities (2025 · Genetics · 被引 21)
• Clinical Actionability of Genetic Findings in Cerebral Palsy (2024 · Archives of Pediatrics and Adolescent Medicine · 被引 16)
• POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia (2024 · Epilepsia · 被引 12)
• The Brain Gene Registry: a data snapshot (2024 · Journal of Neurodevelopmental Disorders · 被引 12)
• Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders (2024 · Annals of Neurology · 被引 9)
• Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function (2024 · Human Genetics and Genomics Advances · 被引 8)