Ellen Elias MD
Clinical Cytogenetics, Clinical Genetics
Professor of Pediatrics, University CO
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13123 E 16th AveAurora, CO 80045
Phone+1 720-777-1234
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Education & Training
Boston Children's Hospital1983 - 1985
Johns Hopkins UniversityResidency, Pediatrics, 1980 - 1983
New York University School of MedicineClass of 1980
Certifications & Licensure
CO State Medical License 2001 - 2025
MA State Medical License 1983 - 2011
American Board of Pediatrics Pediatrics
American Board of Psychiatry and Neurology Neurodevelopmental Disabilities
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
- Most Compassionate Doctor American Registry
- Fellow (FAAP) American Academy of Pediatrics
Clinical Trials
- Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Start of enrollment: 2008 Dec 01
- Smith-Lemli-Opitz Syndrome and Cholic Acid Start of enrollment: 2021 Mar 27
Publications & Presentations
PubMed
- 16 citationsDe novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton
Nature. 2024-08-01 - 6 citationsvariants in the non-coding spliceosomal snRNA geneare a frequent cause of syndromic neurodevelopmental disorders.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker
Medrxiv. 2024-04-09 - 2 citationsCholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.Ellen R Elias, Lucas E Orth, Amy Li, Libin Xu, Sara M Jones
Molecular Genetics and Metabolism Reports. 2024-03-01
Journal Articles
- The ARID1B Spectrum in 143 Patients: From Nonsyndromic Intellectual Disability to Coffin–Siris SyndromeEllen R Elias, Kylin Lammers, Samantha A Vergano, John B Moeschler, Nature
Press Mentions
Patient with Rare Disease Finds Home at CU AnschutzFebruary 24th, 2023
Professional Memberships
- Fellow
- American College of Medical GeneticsFellow
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