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Robert D. Steiner, MD close
Robert D. Steiner, MD

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Robert D. Steiner, MD Print Friendly Page

Faculty, University of Wisconsin School of Medicine and Public Health

Dr. Steiner has a longstanding interest and expertise in biochemical genetic disorders, including those affecting bone metabolism. Steiner is a graduate of the University of Wisconsin and was awarded an MD from the University of Wisconsin School of Medicine and Public Health (formerly UW Medical School), Madison, WI. He completed residency in pediatrics at Cincinnati Children’s Hospital Medical Center and fellowship in medical genetics at the University of Washington and Seattle Children’s Hospital Regional Medical Center. Dr. Steiner is board certified in pediatrics, clinical genetics, and clinical biochemical genetics, and is a member of the faculty of the Division of Genetics and Metabolism. 

Dr. Steiner is an active pediatric genetics clinician, with particular interests in pediatric metabolic bone diseases, inherited metabolic diseases, lysosomal storage diseases, cholesterol disorders, and newborn screening. 



American Family Children's Hospital
(608) 263-6420 | (800) 323-8942 | Map

Hospital Affiliation(s)

University Hospital

UW School of Medicine and Public Health

Department of Pediatrics

Professional Certifications and Education

Board Certification Clinical Biochemical Genetics
Clinical Genetics
Fellowship University of Washington Medical Center, Seattle, WA
Residency Children's Hospital Medical Center, Cincinnati, OH
Medical School University of Wisconsin School of Medicine and Public Health (formerly UW Medical School), Madison, WI

Medical interpreters are available to help patients communicate with hospital and clinic staff. For more information, please contact interpreter services at (608) 262-9000.

Dr. Steiner has served as the Principal Investigator for more than a dozen clinical trials and clinical research studies with continuous research funding from the National Institutes of Health for nearly 20 years. He currently serves as an editorial board member of the Journal of Inherited Metabolic Disease and New Horizons in Translational Medicine, and is Deputy Editor for Nature/Springer Publishing’s Genetics in Medicine.

PubMed Articles
Zastrow DB Baudet H Shen W Thomas A Si Y Weaver MA Lager AM Liu J Mangels R Dwight SS Wright MW Dobrowolski SF Eilbeck K Enns GM Feigenbaum A Lichter-Konecki U Lyon E Pasquali M Watson M Blau N Steiner RD Craigen WJ Mao R ClinGen Inborn Errors of Metabolism Working Group. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat . 2018 Nov;39(11):1569-1580
[PubMed ID: 30311390]
Rivera-Muñoz EA Milko LV Harrison SM Azzariti DR Kurtz CL Lee K Mester JL Weaver MA Currey E Craigen W Eng C Funke B Hegde M Hershberger RE Mao R Steiner RD Vincent LM Martin CL Plon SE Ramos E Rehm HL Watson M Berg JS ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat . 2018 Nov;39(11):1614-1622
[PubMed ID: 30311389]
Abdel-Khalik J Crick PJ Yutuc E DeBarber AE Duell PB Steiner RD Laina I Wang Y Griffiths WJ Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma. Biochimie . 2018 Oct;153:86-98
[PubMed ID: 29960034]
Milko LV Funke BH Hershberger RE Azzariti DR Lee K Riggs ER Rivera-Munoz EA Weaver MA Niehaus A Currey EL Craigen WJ Mao R Offit K Steiner RD Martin CL Rehm HL Watson MS Ramos EM Plon SE Berg JS Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med . 2018 Sep 5;
[PubMed ID: 30181607]
Tam A Chen S Schauer E Grafe I Bandi V Shapiro JR Steiner RD Smith PA Bober MB Hart T Cuthbertson D Krischer J Mullins M Byers PH Sandhaus RA Durigova M Glorieux FH Rauch F Reid Sutton V Lee B Members of the Brittle Bone Disorders Consortium. Rush ET Nagamani SCS A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet . 2018 Aug 26;
[PubMed ID: 30152014]
Jain M Tam A Shapiro JR Steiner RD Smith PA Bober MB Hart T Cuthbertson D Krischer J Mullins M Bellur S Byers PH Pepin M Durigova M Glorieux FH Rauch F Lee B Sutton VR , Members of the Brittle Bone Disorders Consortium*,. Nagamani SCS Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med . 2018 Jul 4;
[PubMed ID: 29970925]
Merkens LS Myrie SB Steiner RD Mymin D Adam MP Ardinger HH Pagon RA Wallace SE Bean LJH Stephens K Amemiya A Sitosterolemia . 1993;
[PubMed ID: 23556150]
Salen G Steiner RD Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis . 2017 Nov;40(6):771-781
[PubMed ID: 28980151]
Othman RA Myrie SB Mymin D Roullet JB DeBarber AE Steiner RD Jones PJH Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe. J Pediatr . 2017 Sep;188:198-204.e1
[PubMed ID: 28625503]
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
[PubMed ID: 28349652]
Othman RA Myrie SB Mymin D Roullet JB Steiner RD Jones PJH Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. Atherosclerosis . 2017 May;260:27-33
[PubMed ID: 28340366]
Calkins KL DeBarber A Steiner RD Flores MJ Grogan TR Henning SM Reyen L Venick RS Intravenous Fish Oil and Pediatric Intestinal Failure-Associated Liver Disease: Changes in Plasma Phytosterols, Cytokines, and Bile Acids and Erythrocyte Fatty Acids. JPEN J Parenter Enteral Nutr . 2017 May 1;:148607117709196
[PubMed ID: 28521607]
Melville JD Hertz SK Steiner RD Lindberg DM ExSTRA Investigators. Use of Imaging in Children With Witnessed Physical Abuse. Pediatr Emerg Care . 2017 Mar 13;
[PubMed ID: 28291153]
Musser ED Willoughby MT Wright S Sullivan EL Stadler DD Olson BF Steiner RD Nigg JT Maternal prepregnancy body mass index and offspring attention-deficit/hyperactivity disorder: a quasi-experimental sibling-comparison, population-based design. J Child Psychol Psychiatry . 2017 Mar;58(3):240-247
[PubMed ID: 27901266]
Dwan K Phillipi CA Steiner RD Basel D Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev . 2016 Oct 19;10:CD005088
[PubMed ID: 27760454]
Renner C Connor WE Steiner RD Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia. Clin Med Res . 2016 Jun;14(2):103-8
[PubMed ID: 27231115]
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 Members of the BBD Consortium. Nagamani SC Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med . 2016 Jun;18(6):570-6
[PubMed ID: 26426884]
Freeman KA Olufs E Tudor M Roullet JB Steiner RD A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. J Dev Behav Pediatr . 2016 Jun;37(5):424-30
[PubMed ID: 27244299]
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 Jun;53(6):403-18
[PubMed ID: 26908836]
Shapiro EG Rudser K Ahmed A Steiner RD Delaney KA Yund B King K Kunin-Batson A Eisengart J Whitley CB A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Mol Genet Metab Rep . 2016 Jun;7:32-9
[PubMed ID: 27114914]