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2825 50th StSacramento, CA 95817
Phone+1 916-730-7720
Fax+1 916-703-0203
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Education & Training
Cedars-Sinai Medical CenterResidency, Medical Genetics and Genomics, 2003 - 2005
University of California Davis HealthResidency, Pediatrics, 1999 - 2002
Southern Illinois University School of MedicineClass of 1999
Certifications & Licensure
CA State Medical License 2001 - 2027
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Heterozygous de novo variants incause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, Maism Molhem, Emmanuelle Ranza
Journal of Medical Genetics. 2024-12-31 - 3 citationsNovel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.Thomas B Smith, Alessandro Rea, Huw B Thomas, Kyle Thompson, Monika Oláhová
European Journal of Human Genetics. 2023-10-01 - 40 citationsDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews
Nature Communications. 2019-10-15
Press Mentions
The Evolving Need for Neonatal Care: From the Premature Infant to the Rare DiseaseAugust 15th, 2023- Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery from the Pulmonary ArteryAugust 15th, 2023
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