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Ellen Roy Elias

TitleProfessor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone720/777-6739

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. 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 03 05; 106(3):405-411. PMID: 32109420.
      View in: PubMed
    2. 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. PMID: 30696996.
      View in: PubMed
    3. Shelkowitz E, Singh JK, Larson A, Elias ER. IRF2BPL gene mutation: Expanding on neurologic phenotypes. Am J Med Genet A. 2019 11; 179(11):2263-2271. PMID: 31432588.
      View in: PubMed
    4. 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. PMID: 30783897.
      View in: PubMed
    5. 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 06; 21(6):1295-1307. PMID: 30349098.
      View in: PubMed
    6. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 8588579.
      View in: PubMed
    7. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 32475986.
      View in: PubMed
    8. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 32567802.
      View in: PubMed
    9. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 33350388.
      View in: PubMed
    10. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 34183359.
      View in: PubMed
    11. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 28439358.
      View in: PubMed
    12. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 25422022.
      View in: PubMed
    13. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 7608816.
      View in: PubMed
    14. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 1872243.
      View in: PubMed
    15. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 14662594.
      View in: PubMed
    16. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 8808751.
      View in: PubMed
    17. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 9382145.
      View in: PubMed
    18. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 20814261.
      View in: PubMed
    19. Rulifson G, Bielefeldt AR. Evolution of Students' Varied Conceptualizations About Socially Responsible Engineering: A Four Year Longitudinal Study. Sci Eng Ethics. 2019 06; 25(3):939-974. PMID: 15840802.
      View in: PubMed
    20. Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2017 Aug; 173(8):2097-2100. PMID: 28349652.
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    21. 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. PMID: 27859447.
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    22. 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. PMID: 27148590.
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    23. 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. PMID: 23072947.
      View in: PubMed
    24. Elias ER, Murphy NA. Home care of children and youth with complex health care needs and technology dependencies. Pediatrics. 2012 May; 129(5):996-1005. PMID: 22547780.
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    25. Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91. PMID: 20440536.
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    26. Pickler L, Elias E. Genetic evaluation of the child with an autism spectrum disorder. Pediatr Ann. 2009 Jan; 38(1):26-9. PMID: 19213290.
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    27. Murphy NA, Elias ER. Sexuality of children and adolescents with developmental disabilities. Pediatrics. 2006 Jul; 118(1):398-403. PMID: 16818589.
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    28. Berman S, Rannie M, Moore L, Elias E, Dryer LJ, Jones MD. Utilization and costs for children who have special health care needs and are enrolled in a hospital-based comprehensive primary care clinic. Pediatrics. 2005 Jun; 115(6):e637-42. PMID: 15930189.
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    29. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90. PMID: 14556252.
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    30. Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14. PMID: 14605787.
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    31. Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000 May 22; 9(9):1385-91. PMID: 10814720.
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    32. Wheeler PG, Sadeghi-Nejad A, Elias ER. The 3C syndrome: evolution of the phenotype and growth hormone deficiency. Am J Med Genet. 1999 Nov 05; 87(1):61-4. PMID: 10528249.
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    33. Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB. A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genet Med. 1999 Mar-Apr; 1(3):104-8. PMID: 11336448.
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    34. Borer JG, Kaefer M, Barnewolt CE, Elias ER, Hobbs N, Retik AB, Peters CA. Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome. J Urol. 1999 Jan; 161(1):235-9. PMID: 10037413.
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    35. Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8. PMID: 9706645.
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    36. Giampietro PF, Auerbach AD, Elias ER, Gutman A, Zellers NJ, Davis JG. New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. Am J Med Genet. 1998 Jun 16; 78(1):70-5. PMID: 9637428.
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    37. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31; 68(3):311-4. PMID: 9024565.
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    38. Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet. 1997 Jan 31; 68(3):305-10. PMID: 9024564.
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    39. Tint GS, Batta AK, Xu G, Shefer S, Honda A, Irons M, Elias ER, Salen G. The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Subcell Biochem. 1997; 28:117-44. PMID: 9090293.
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    40. Milunsky JM, Wyandt HE, Huang XL, Kang XZ, Elias ER, Milunsky A. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet. 1996 Jan 22; 61(3):269-73. PMID: 8741873.
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    41. Elias ER, Irons M. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4. PMID: 8776024.
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    42. Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Ital J Gastroenterol. 1995 Dec; 27(9):506-8. PMID: 8919321.
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    43. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest. 1995 Oct; 96(4):1779-85. PMID: 7560069.
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    44. Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994 May 01; 50(4):347-52. PMID: 8209913.
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    45. Elias ER, Sadeghi-Nejad A. Precocious puberty in girls with myelodysplasia. Pediatrics. 1994 Mar; 93(3):521-2. PMID: 8115222.
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    46. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13; 330(2):107-13. PMID: 8259166.
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    47. Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993 May 29; 341(8857):1414. PMID: 7684480.
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