Search Results By Year:
Showing 1 - 15 of 160 results
  • Doi SA, Salzman-Scott SA, Onitilo AA. Validation of the CoRE Questionnaire for Medical Journal Peer Review. Account Res. 2016 Jan 20;23(1):47-52.
    PubMed ID: 26192007
  • Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016 Feb 23;
    PubMed ID: 26908836
  • Renner C, Connor WE, Steiner RD. Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. Clin Med Res. 2016 Jun 26;14(2):103-8.
    PubMed ID: 27231115
  • Rice GM, Steiner RD. Inborn Errors of Metabolism (Metabolic Disorders). Pediatr Rev. 2016 Jan;37(1):3-15; quiz 16-7, 47.
    PubMed ID: 26729777
  • Banta-Wright S, Kodadek SM, Steiner R, Houck G. Challenges to Breastfeeding Infants With Phenylketonuria. J Pediatr Nurs. 2015 Feb;30(1):219-26.
    PubMed ID: 24952998
  • Othman RA, Myrie S, Mymin D, Merkens L, Roullet J, Steiner R, Jones PJ. Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J Pediatr. 2015 Jan;166(1):125-31.
    PubMed ID: 25444527
  • Schrodi SJ, Debarber A, He M, Ye Z, Peissig PL, VanWormer JJ, Haws RM., Brilliant MH, Steiner R. Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. Hum Genet. 2015 Jun;134(6):659-69.
    PubMed ID: 25893794
  • Haws RM., Krentz AD, Stankowski RV, Steiner R. Bardet-Biedl syndrome:A model for translational research in rare diseases. NewHorizonsinTranslationalMedicine. 2015 Jun;2(2015):102-9.
  • Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS, Steiner R. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4;372(23):2235-42.
    PubMed ID: 26014595
  • Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Nagamani SC. Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2015 Oct 1;
    PubMed ID: 26426884
  • Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, Bonnen PE. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Mol Genet Metab. 2015 Dec;116(4):298-304.
    PubMed ID: 26643207
  • Eroglu Y, Roullet J, Steiner R. Cholesterol, Sterols, and Isoprenoids..
  • Onitilo AA, Engel JM, Salzman SA, Stankowski RV, Doi SA. R.. A core-item reviewer evaluation (CoRE) system for manuscript peer review. Account Res. 2014;21(2):109-21.
    PubMed ID: 24228975
  • Banta-Wright S, Press N, Knafl K, Steiner R, Houck G. Breastfeeding Infants with Phenylketonuria in the United States and Canada. Breastfeed Med. 2014 Apr;9 :142-8.
    PubMed ID: 24350704
  • Merkens MJ, Sinden NL, Brown CD, Merkens L, Roullet J, Nguyen T, Steiner R. Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. J Pediatr.. 2014 Oct;165(4):836-41.
    PubMed ID: 25039049