Ellen Roy Elias, MD

Professional Titles

• Director, Special Care Clinic

Recognitions

• 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
• Nominated for Best Pediatric Preceptor at the Golden Stethoscope Award night, sponsored by, CU School of Medicine, Foundations of Doctoring Curriculum (2012)
• Best Specialty Preceptor, Golden Stethoscope Award, Golden Stethoscope Award from CU School of Medicine, Foundations of Doctoring Program (2013)
• TOP DOC, 5280 magazine (2020)
  Have received it every year since 2009
• America's Best Physicians, America's Best physicians (2020)
  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.

Research Interests

Publications

• 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
• Rosenblatt, AI, Carbone, PS. Autism Spectrum Disorders, What Every Parent Needs to Know, published by the AAP in 2012. I was a medical reviewer for this book and wrote the chaper on the genetics of autism.
• Froelhke, M and Zaborek, R. When Autism and Down syndrome intersect, Woodbine House
• 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
• 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
• 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
• Larson, A, LeRoux, J, Elias, ER, Exonic deletion of OPHN1 resulting in seizures, intellectual disability, and brain malformations, Advances in Genomics and Genetics, 2014; 4, 1-4
• 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
• 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
• 26. Larson, AL, and Elias ER, Biological Influences on Child Development and Behavior and Medical Evaluation of Children with Developmental-Behavioral Delays/Disorders, to be published in Developmental and Behavioral Pediatrics, 2nd edition, edited by Dr. Robert Voigt, Dr. Michelle Macias, Dr. Scott Myers, and Dr. Carl Tapia. 2017
• Pointon T, Elias ER. Auditory findings in Smith-Lemli-Opitz Syndrome. Clin of Otorhinolaryngology (2017) 2:1 017
• Rachubinski, AL, Hepburn, S, Elias, ER ; Katheleen Gardiner, Tamim H. Shaikh. The co-occurrence of Down syndrome and autism spectrum disorder: is it due to additional genetic variations? Prenatal Diagnosis, 2017 Jan 37(1):31-36
• 26. Larson, AL, and Elias ER, Chap 4, Biological Influences on Child Development and Behavior and Medical Evaluation of Children with Developmental-Behavioral Delays/Disorders, published in Developmental and Behavioral Pediatrics, 2nd edition, edited by Dr. Robert Voigt, Dr. Michelle Macias, Dr. Scott Myers, and Dr. Carl Tapia. American Academy of Pediatrics 2018
• 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
• 27. Ellen R Elias, “The Trials of Transition – how well are we doing, and how can we do better?” Requested Commentary in the Journal of Graduate Medical Education, published in April 2017
• 28. Meeks, Naomi, Saenz, Margarita, Tsai, C-H, and Elias ER. Genetics and Dysmorphology, in Current Pediatric Diagnosis and Treatment 24th Edition, 2018 McGraw Hill
• 29. Jarrell J.A., Elias E.R., Kang T.I. (2018) Palliative Care in Adolescents and Young Adults with Special Healthcare Needs. In: Hergenroeder A., Wiemann C. (eds) Health Care Transition. Springer, Cham
• 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
• Tian LH, Wiggins LD, Schieve LA, Yeargin-Allsopp M, Dietz P, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Dowling NF, Shapira SK. Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. Autism Res. 2020 Jul;13(7):1227-1238. PubMed PMID: 32567802
• Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Oct;22(10):1682-1693. PubMed PMID: 32475986
• Nabais Sá MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 Mar 5;106(3):405-411. PubMed PMID: 32109420
• 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
• 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, Sanchis Calvo A, 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. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Jun;21(6):1295-1307. PubMed PMID: 30349098
• Houtrow A, Elias ER, Davis BE. Promoting Healthy Sexuality for Children and Adolescents With Disabilities. Pediatrics. 2021 Jul;148(1). PubMed PMID: 34183359
• El Hayek L, Tuncay IO, Nijem N, Russell J, Ludwig S, Kaur K, Li X, Anderton P, Tang M, Gerard A, Heinze A, Zacher P, Alsaif HS, Rad A, Hassanpour K, Abbaszadegan MR, Washington C, DuPont BR, Louie RJ, Couse M, Faden M, Rogers RC, Abou Jamra R, Elias ER, Maroofian R, Houlden H, Lehman A, Beutler B, Chahrour MH. KDM5A mutations identified in autism spectrum disorder using forward genetics. Elife. 2020 Dec 22;9. PubMed PMID: 33350388
• Tian LH, Wiggins LD, Schieve LA, Yeargin-Allsopp M, Dietz P, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Dowling NF, Shapira SK. Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. Autism Res. 2020 Jul;13(7):1227-1238. PubMed PMID: 32567802
• Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Oct;22(10):1682-1693. PubMed PMID: 32475986
• Nabais Sá MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 Mar 5;106(3):405-411. PubMed PMID: 32109420
• Houtrow A, Elias ER, Davis BE. Promoting Healthy Sexuality for Children and Adolescents With Disabilities. Pediatrics. 2021 Jul;148(1). PubMed PMID: 34183359
• Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo D, Molecular Genetics and Metabolism Reports, Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study Vol 38, March 2024, 101030
• OJRD-D-23-00107R1 Louise J Tofts; Jane Simmonds; Sarah B Schwartz; Roberto M Richheimer; Constance O'Connor; Ellen Elias; Raoul Engelbert; Katie Cleary; Brad T Tinkle; Antonie D Kline; Alan J Hakim; Marion A J van Rossum; Verity Pacey Pediatric Joint Hypermobility – a Diagnostic Framework and Narrative Review Orphanet Journal of Rare Diseases –
• PMID: 38991538
• 70. Ellen R Elias, Janet M Bell, Gene variants identified in pediatric patients with Hypermobile Ehlers-Danlos Syndrome (hEDS)) 2024 American Society of Human Genetics Annual Meeting in Denver, CO, from November 5-9.

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

Specialty Information

• Pediatrics, Board Certification (1985)
• Clinical Genetics and Genomics (MD), Board Certification (1993, 2019)
• Neurodevelopmental Disabilities, Board Certification (2001, 2011)
• Neurodevelopmental Disabilities, Board Certification (2011)

• Genetic Conditions and Testing