Ellen Roy Elias, MD
Professor, Pediatrics-General Pediatrics

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Medical School:
  • MD, New York University School of Medicine (1980)
Undergraduate School:
  • BA, Princeton University (NJ) (1976)
Internship:
  • Johns Hopkins University School of Medicine Program (1981)
Residency:
  • Johns Hopkins University School of Medicine Program, Pediatrics (1983)
Languages: English
Department: Pediatrics-General Pediatrics

Professional Titles

  • Professor, Pediatrics-General Pediatrics
  • Director, Special Care Clinic

Recognition & Awards

  • TOP DOC, 5280 magazine (2018)
    Have received it every year since 2009
  • America's Best Physicians, America's Best physicians (2018)
    Have received every year since 2016
  • Career Teaching Scolar Award, Department of Pediatrics (2018)
    The Teaching Scholar Award is given to gifted teachers who have made outstanding contributions to pediatric education throughout their careers.
  • Best Specialty Preceptor, Golden Stethoscope Award, Golden Stethoscope Award from CU School of Medicine, Foundations of Doctoring Program (2013)
  • Nominated for Best Pediatric Preceptor at the Golden Stethoscope Award night, sponsored by, CU School of Medicine, Foundations of Doctoring Curriculum (2012)
  • Nominated for Best Role Model, Golden Stethoscope Award, CU School of Medicine, Foundations of Doctoring Curriculum (2011)
  • Teaching Award for Favorite Clinical Correlate for Down Syndrome and Prader-Willi lectures, CU School of Medicine Class of 2014 (2011)
  • Citation, AAP (2011)
    in recognition of distinguished service rendered as a member of the Executive Committee of the Council on Children with Disabilities 2003-2010

Research Interests

My research involves clinical management of children with Smith-Lemli-Opitz Syndrome. I also have two current research projects involving patients with Down syndrome, one looking at underlying genetic mechanisms associated with Autism in patients with DS, and the other looking at genetic etiologies for autoimmune disorders. I have developed a new center for caring for patients with EDS, and there will be research efforts associated with this work.

Publications

  • Shelkowitz E, Singh JK, Larson A, Elias ER. IRF2BPL gene mutation: Expanding on neurologic phenotypes. Am J Med Genet A. 2019 Nov;179(11):2263-2271. PubMed PMID: 31432588
  • Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. J Autism Dev Disord. 2019 May;49(5):2184-2202. PubMed PMID: 30783897
  • van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Sep;21(9):2160-2161. PubMed PMID: 30696996
  • Elias ER. The Trials of Transition: How Well We Are Doing, and How We Can Do Better. J Grad Med Educ. 2017 Apr;9(2):228-230. PubMed PMID: 28439358
  • Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?. Prenat Diagn. 2017 Jan;37(1):31-36. PubMed PMID: 27859447
  • Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?. Prenat Diagn. 2016 Nov 17. [Epub ahead of print] PubMed PMID: 27859447
  • Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. PubMed PMID: 27148590
  • Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. PubMed PMID: 27148590
  • Adams RC, Elias ER, COUNCIL ON CHILDREN WITH DISABILITIES, COUNCIL ON CHILDREN WITH DISABILITIES. Nonoral feeding for children and youth with developmental or acquired disabilities. Pediatrics. 2014 Dec;134(6):e1745-62. PubMed PMID: 25422022
  • Adams RC, Elias ER. Nonoral feeding for children and youth with developmental or acquired disabilities. Pediatrics. 2014 Dec;134(6):e1745-62. PubMed PMID: 25422022
  • Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res. 2013 Jan;54(1):244-53. PubMed PMID: 23072947
  • Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res. 2013 Jan;54(1):244-53. PubMed PMID: 23072947
  • Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res. 2013 Jan;54(1):244-53. PubMed PMID: 23072947
  • Elias ER, Murphy NA, Council on Children with Disabilities. Home care of children and youth with complex health care needs and technology dependencies. Pediatrics. 2012 May;129(5):996-1005. PubMed PMID: 22547780
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Professional Memberships

  • American Society of Human Genetics, Member
  • American Academy of Pediatrics, Fellow
  • Society for Developmental Pediatrics, member
  • American College of Medical Genetics, Fellow

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Children's Hospital Colorado Special Care Clinic
13123 E 16th Ave
Aurora, CO 80045
720-777-6739

Hospital Affiliation
  • Children's Hospital Colorado

Specialty Information

Specialties
  • Pediatrics, Board Certification (1985)
  • Clinical Genetics and Genomics (MD), Board Certification (1993, 2019)
  • Neurodevelopmental Disabilities, Board Certification (2001, 2011)
  • Neurodevelopmental Disabilities, Board Certification (2011)
Conditions & Treatments
  • Genetic Conditions and Testing
Clinical Interests
I am interested in treating children with underlying genetic problems, developmental delay, feeding issues and birth defects. I am particularly interested in caring for patients with Smith-Lemli-Opitz Syndrome, Ehlers-Danlos Syndrome, chromosome abnormalities such as Down syndrome, and Autism. I am Director of the Ehlers-Danlos Center for Excellence on the Anschutz campus

Care Philosophy
I have been a pediatrician for almost 40 years and have devoted my career to caring for children with developmental disabilities and medical complexity. I am proud to be the Medical Director of the Special Care Clinic at Children's Hospital Colorado, where we provide a medical home to children with complex medical issues and support their families in a number of ways.

Personal Interests
I am a violinist and play in the Arapahoe Philharmonic orchestra. I also play chamber music in many different groups

Public Speaking
Yes
I have given a number of lectures on topics including the genetic causes of intellectual disabilities and autism, and Ashkenazi Jewish Genetic Disorders.

General Information

Medical Schools:
  • MD, New York University School of Medicine (1980)
Undergraduate Schools:
  • BA, Princeton University (NJ) (1976)
Internships:
  • Johns Hopkins University School of Medicine Program (1981)
Residency Programs:
  • Johns Hopkins University School of Medicine Program, Pediatrics (1983)
Download CV
Languages: English
Department: Pediatrics-General Pediatrics
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