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Office
3401 Civic Center Blvd
Children's Hospital Of Philadelphia - Neurology
Philadelphia, PA 19104Phone+1 215-590-1719Fax+1 215-590-1771
Education & Training
- University of Pennsylvania Health SystemResidency, Neurology, 2010 - 2013
- Children's Hospital of PhiladelphiaFellowship, Child Neurology, 2010 - 2013
- Children's Hospital of PhiladelphiaResidency, Pediatrics, 2008 - 2010
- New York University School of MedicineClass of 2008
- University of Wisconsin Hospitals and ClinicsResidency, Internal Medicine, 1962 - 1963
- UMass Chan Medical SchoolResidency, Internal Medicine, 1960 - 1961
Certifications & Licensure
- FL State Medical License 2021 - Present
- NJ State Medical License 2022 - 2025
- PA State Medical License 2008 - 2024
- NY State Medical License 2021 - 2023
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Publications & Presentations
PubMed
- 60 citationsMitochondrial deficits in human iPSC-derived neurons from patients with 22q11.2 deletion syndrome and schizophrenia.Jianping Li, Sean K. Ryan, Erik M. DeBoer, Kieona Cook, Shane Fitzgerald
Translational Psychiatry. 2019-11-18 - 4 citationsHigh density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, Brianna Disanza, Gregory G Cajka
Biorxiv. 2023-06-26 - 19 citationsGenomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard
Genetics in Medicine. 2022-11-01
Journal Articles
- Correction: IQSEC2-Related Encephalopathy in Males and Females: A Comparative Study Including 37 Novel PatientsNatasha Shur, Ethan M Goldberg, Nature
- IQSEC2-Related Encephalopathy in Males and Females: A Comparative Study Including 37 Novel PatientsNatasha Shur, Ethan M Goldberg, Katherine L Helbig, Ana G Cristancho, Nature
- A Transient Developmental Window of Fast-Spiking Interneuron Dysfunction in a Mouse Model of Dravet SyndromeEthan Goldberg, MD, The Journal of Neuroscience
Press Mentions
- Novel Tool Used to Mine Clinical Data and Identify Causative Gene in Childhood EpilepsyMay 16th, 2019
- Researchers Explore Genetic Basis of Early Childhood EpilepsiesDecember 7th, 2014
- CHOP Researchers Use Human Stem Cells to Model a Severe Epilepsy Syndrome and Identify a Potential Targeted TreatmentNovember 22nd, 2023
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