• Robert Steiner MD

  • Physician - Genetics


    • Marshfield - Genetics
    • 1000 North Oak Avenue GK4 Marshfield, WI 54449

Education

2013:
Cattails College Leadership Program, Marshfield Clinic, Marshfield, Wi
2012:
Paths to Leadership, Oregon Health & Science University (OHSU) School of Medicine, Division of Management, Portland, OR
2001 to 2003:
Human Investigations Program, NIH K-30 Clinical Investigation Training Program, Oregon Health & Science University (OHSU), Portland, OR
1990 to 1992:
Fellowship, Medical Genetics, Seattle Children's Hospital / University of Washington, Seattle, WA
1987 to 1990:
Residency, Pediatrics, Children's Hospital Medical Center / University of Cincinnati, Cincinnati, OH
1983 to 1987:
MD, University of Wisconsin Medical School, Madison, WI
1979 to 1983:
BS, Molecular Biology, Graduated with Distinction, University of Wisconsin, Madison, WI

Work Experience

2022 to Present:
Affiliate member - Center for Human Genomics and Precision Medicine, University of Wisconsin, Madison, WI
2021 to Present:
Faculty Member - Center for Rare Diseases, Center of Excellence designation from the National Organization for Rare Diseases, University of Wisconsin, Madison, WI
2019 to Present:
Editor-in-Cheif, Genetics in Medicine
2019 to Present:
Faculty - Laboratory Genetics and Genomics and Clinical biochemical Genetics, University of Wisconsin, Madison, WI
2017 to Present:
Clinical Geneticist/Clinical Biochemical Geneticist and Research - Marshfield Clinic Research Insitute, Marshfield Clinic, Inc., Marshfield, WI
2017 to Present:
Chief Medical Officer, PreventionGenetics, Marshfield, WI
2017 to Present:
Attending Physician, Marshfield Medical Center - Marshfield, Marshfield, WI
2014 to Present:
Professor (Clinical), University of Wisconsin School of Medicine and Public Health, Madison, WI
2013 to Present:
Affiliate Professor, Oregon Health & Science University, Portland, OR
2013 to Present:
Professor (Clinical) - Department of Pediatrics, University of Wisconsin School of Medicine and Public Health / American Family Children's Hospital, Madison, WI
2021 to 2023:
Wisconsin Newborn Screening Program Medical Consultant, Wisconsin Department of Health Services, Madison, WI
2017 to 2021:
Medical Director, Security Health Plan, a division of Marshfield Clinic Health System, Marshfield, WI
2016 to 2020:
Clinical Consultant, Censa Pharmaceuticals, Inc., Cambridge, MA
2011 to 2018:
Deputy Editor, Genetics In Medicine
2016 to 2017:
Cheif Medical Officer, Acer Therapeutics, The Woodlands, TX
2013 to 2016:
Executive Director - Marshfield Clinic Research Institution, Marshfield Clinic, Inc., Marshfield, WI
2013 to 2016:
Chief Science Officer, Marshfield Clinic Health System, Marshfield, WI
2013 to 2016:
Associate Executive Director - Institute for Clinical and Translational Research (ICTR, CTSA grant) University of Wisconsin, University of Wisconsin, Madison, WI
2010 to 2013:
Tenured Professor - Pediatrics & Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR
2009 to 2013:
Professor of Pediatric Research - Credit Unions for Kids (Endowed), Oregon Health & Science University, Portland, OR
2006 to 2013:
Professor - Pediatrics and Molecular and Medical Genetics, Oregon Health & Science University, Portand, OR
2006 to 2013:
Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University, Portland, OR
2000 to 2013:
Faculty - Program in Molecular and Cellular Biosciences, Oregon Health & Science University, Portland, OR
1997 to 2013:
Member Scientist - Heart Research Center, Oregon Health & Science University, Portland, OR
1995 to 2013:
Staff Consultant, Director: Metabolic Bone Disease Clinic, Shriners Hospital, Portland, OR
2006 to 2010:
Director, Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute, NIH CTSA grant, Oregon Health & Science University, Portland, OR
2002 to 2008:
Executive Committee Member, OHSU Center for the Study of Weight Regulation (CSWR), Oregon Health & Science University, Portland, OR
2006 to 2007:
Interim Director, Pediatric Clinical Research Office, Oregon Health & Science University, Portland, OR
2000 to 2006:
Associate Professor, Pediatrics & Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR
1995 to 2006:
Head, Division of Metabolism, Department of Pediatrics, Oregon Health & Science University, Portland, OR
1998 to 2004:
Clinical Associate Physician and Investigator- General Clinical Research Center, Oregon Health & Science University, Portland, OR
1995 to 2000:
Assistant Professor, Department of Pediatrics & Molecular and Medical Genetics, Oregon Health & Sciences University, Portland, OR
1992 to 1995:
Staff Consultant - Metabolic Research, Shriners Hospital, St. Louis, MO
1992 to 1995:
Instructor/Assistant Professor in Pediatrics, Washington University School of Medicine, St. Louis, MO

Board Certifications

1993 to 2025:
American Board of Medical Genetics and Genomics - Clinical Biochemical Genetics, Diplomate
2010 to 2025:
American Board of Pediatrics, Diplomate
2020 to 2025:
American Board of Medical Genetics and Genomics - Clinical Genetics and Genomics, Diplomate

Statement

Robert D. Steiner, MD is Executive Director, Marshfield Clinic Research Foundation (MCRF), Chief Scientific Officer Marshfield Clinic, and Executive Associate Director, University of Wisconsin Institute for Clinical and Translational Research (ICTR). At MCRF, Steiner directs a research institute with nearly 200 employees, 30 full time scientists, and 125 clinician-investigators. He is also Professor, University of Wisconsin School of Medicine and Public Health. Steiner is a visionary executive leader with operational, financial, managerial, and leadership experience primarily in Pediatrics, Genetics/Genomics, and Biomedical Research. Steiner was formerly Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular & Medical Genetics, and Vice Chair for Research in Pediatrics at Doernbecher Children’s Hospital and the Institute for Developmental Disabilities, Oregon Health & Science University (OHSU) in Portland, Oregon. He also led the Division of Metabolism, Department of Pediatrics at OHSU for over a decade. Dr. Steiner is a practicing clinician, board certified in pediatrics, and clinical and clinical biochemical genetics.
Dr. Steiner has interests in inherited metabolic diseases, cholesterol disorders, metabolic bone diseases, neurodevelopmental disabilities, genomics, and newborn screening. He has been listed in Best Doctors in America 2009-13 Inclusive and 2015, and Portland’s Top Doctors 2012. In addition, he is an accomplished researcher, having served as the Principal Investigator for more than a dozen clinical research studies. Cumulative individual grant and contract funding exceeds $15 million. He has enjoyed continuous NIH funding for more than 18 years. Steiner has authored over 135 peer-reviewed original research articles, and more than 75 letters, reviews, and book chapters. 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 Genetics in Medicine. Dr. Steiner is a member of several professional societies and is Treasurer, American College of Genetics and Genomics Board of Directors. He was honored to serve on the Institute of Medicine (IOM) Committee that published recommendations on Accelerating Rare Diseases Research and Orphan Product Development. Steiner is an active advisor to patient advocacy groups and has proven to be a tireless advocate for rare disease patients.

Research Interests

Inherited metabolic diseases
Cholesterol disorders
Metabolic bone diseases
Osteogenesis Imperfecta
Batten Disease/Neuronal Ceroid Lipofuscinosis
Newborn screening
Phenylketonuria
Pompe Disease

Professional Societies

1999 to 2002:
Western Society for Pediatric Research, Council Member
2004 to 2008:
Society for Pediatric Research, Award Selection Committee
1995 to 2013:
Oregon Medical Association, Member
2000 to 2013:
Oregon Society of Physician Assistants, Member
American College of Medical Genetics, Fellow
American Academy of Pediatrics, Fellow
American Society of Human Genetics, Member
Society for the Study of Inborn Errors of Metabolism, Member
Society for Inherited Metabolic Disease, Member
American Association for the Advancement of Science, Member
Western Society for Pediatric Research, Member
American Medical Association, Member
American Academy of Pediatrics, Section on Genetics and Birth Defects, Member
American Society for Biochemistry and Molecular Biology, Member
2000 to Present:
Society for Pediatric Research, Member

Select Publications

  • Harding C, Pillers D, Steiner R, Bottiglieri T, Rosenblatt D, Debley J, Michael Gibson K. (2003 July). Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. J Perinatol. 23(5):384-6.
    PubMed ID: 12847533
  • Banta-Wright S, Steiner R. (2003). Not so Rare: Errors of Metabolism During the Neonatal Period Newborn Infant and Nursing Reviews. 3 :143-155.
  • Bove K, Steiner R. (2003 September). Expanding the limits of the Fryns syndrome. American Journal of Medical Genetics Part A. 122A(1):89-90.
    PubMed ID: 12949980
  • Robinson S, Morris C, Goldmuntz E, Reller M, Jones M, Steiner R, Maslen C. (2003 April). Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. AMERICAN JOURNAL OF HUMAN GENETICS. 72(4):1047-52.
    PubMed ID: 12632326
  • Acosta P, Yannicelli S, Singh R, Mofidi S, Steiner R, DeVincentis E,...Rouse B. (2003 September). Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. JOURNAL OF THE AMERICAN DIETETIC ASSOCIATION. 103(9):1167-73.
    PubMed ID: 12963945
  • Wilcox R, Steiner R. (2003 March). Metabolic disease and sudden unexpected death. JOURNAL OF PEDIATRICS. 142(3):357.
    PubMed ID: 12640390
  • Yannicelli S, Acosta P, Velazquez A, Bock H, Marriage B, Kurczynski T,...Arnold G. (2003 September). Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. MOLECULAR GENETICS AND METABOLISM. 80(1-2):181-8.
    PubMed ID: 14567967
  • Goldenberg P, Steiner R, Merkens L, Dunaway T, Egan R, Zimmerman E,...Kennaway N. (2003 March). Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency. NEUROLOGY. 60(5):865-8.
    PubMed ID: 12629249
  • Wicklow B, Ivanovich J, Plews M, Salo T, Noetzel M, Lueder G,...Triggs-Raine B. (2004 June). Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. American Journal of Medical Genetics Part A. 127A(2):158-66.
    PubMed ID: 15108204
  • Lalovic A, Merkens L, Russell L, Arsenault-Lapierre G, Nowaczyk M, Porter F,...Turecki G. (2004 November). Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. AMERICAN JOURNAL OF PSYCHIATRY. 161(11):2123-6.
    PubMed ID: 15514417
  • Acosta P, Yannicelli S, Singh R, Elsas L2nd, Mofidi S, Steiner R. (2004 March). Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. GENETICS IN MEDICINE. 6(2):96-101.
    PubMed ID: 15017332
  • Moore D, Ye F, Brennan M, Gupta S, Barshop B, Steiner R,...Schiffmann R. (2004 October). Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. JOURNAL OF MAGNETIC RESONANCE IMAGING. 20(4):674-83.
    PubMed ID: 15390234
  • Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B,...Hopwood J. (2004 May). Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). JOURNAL OF PEDIATRICS. 144(5):574-80.
    PubMed ID: 15126989
  • Sikora D, Ruggiero M, Petit-Kekel K, Merkens L, Connor W, Steiner R. (2004 June). Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. JOURNAL OF PEDIATRICS. 144(6):783-91.
    PubMed ID: 15192627
  • Banta-Wright S, Steiner R. (2004 January). Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses. JOURNAL OF PERINATAL & NEONATAL NURSING. 18(1):41-58; quiz 59-60.
    PubMed ID: 15027667
  • Ginat S, Battaile K, Battaile B, Maslen C, Gibson K, Steiner R. (2004 September). Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. MOLECULAR GENETICS AND METABOLISM. 83(1-2):175-83.
    PubMed ID: 15464432
  • Merkens L, Connor W, Linck L, Lin D, Flavell D, Steiner R. (2004 November). Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. PEDIATRIC RESEARCH. 56(5):726-32.
    PubMed ID: 15319461
  • Budden S, Dorsey H, Steiner R. (2005 November). Clinical profile of a male with Rett syndrome. Brain Dev. 27(Suppl 1):S69-S71.
    PubMed ID: 16182490
  • Harmatz P, Kramer WG, Hopwood J, Simon J, Butensky E, Swiedler S,...Steiner R. (2005 March). Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl. 94(447):61-8; discussion 57.
    PubMed ID: 15895715
  • Steiner R, Pepin M, Byers P. (2005). Osteogenesis Imperfecta Gene Reviews mttp://www.genetests.org.
  • Steiner R. (2005 April). Evidence based medicine in inborn errors of metabolism: is there any and how to find it. American Journal of Medical Genetics Part A. 134A(2):192-7.
    PubMed ID: 15690407
  • Heike C, Cunningham M, Steiner R, Wenkert D, Hornung R, Gruss J,...Whyte MP. (2005 December). Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? American Journal of Medical Genetics Part A. 139A(2):67-77.
    PubMed ID: 16222671
  • Correa-Cerro L, Wassif C, Waye J, Krakowiak P, Cozma D, Dobson N,...Porter F. (2005 April). DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. JOURNAL OF MEDICAL GENETICS. 42(4):350-7.
    PubMed ID: 15805162
  • Lin D, Steiner R, Flavell D, Connor W. (2005 June). Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. PEDIATRIC RESEARCH. 57(6):765-70.
    PubMed ID: 15774833
  • Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles E, Miranda M,...Steiner R. (2005 June). Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. PEDIATRICS. 115(6):e681-9.
    PubMed ID: 15930196
  • Steiner R, Reeder J. (2005). Pharmacologic treatment for improving bone density in people with osteogenesis imperfecta. (Protocol). Cochrane Database of Systematic Reviews. (1):Art. No CD005088.
  • Steiner R, Campbell P. (2006). Sitosterolemia eMedicine form WebMD www.emedicine.com/ped/topiclist.htm.
  • Sikora D, Pettit-Kekel K, Penfield J, Merkens L, Steiner R. (2006 July). The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics Part A. 140(14):1511-8.
    PubMed ID: 16761297
  • Christ S, Steiner R, Grange D, Abrams R, White D. (2006). Inhibitory control in children with phenylketonuria. DEVELOPMENTAL NEUROPSYCHOLOGY. 30(3):845-64.
    PubMed ID: 17083296
  • American College of Medical Genetics Newborn Screening Expert Group, Steiner R. (2006). Newborn screening: toward a uniform screening panel and system - main report GENETICS IN MEDICINE. 8(Suppl 5):12S-252S.
  • Kishnani P, Steiner R, Bali D, Berger K, Byrne B, Case L,...Watson M. (2006 May). Pompe disease diagnosis and management guideline. GENETICS IN MEDICINE. 8(5):267-88.
    PubMed ID: 16702877
  • Madsen P, Kibaek M, Roca X, Sachidanandam R, Krainer A, Christensen E,...Andresen B. (2006 February). Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. HUMAN GENETICS. 118(6):680-90.
    PubMed ID: 16317551
  • Tulenko T, Boeze-Battaglia K, Mason R, Tint G, Steiner R, Connor W, Labelle E. (2006 January). A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. JOURNAL OF LIPID RESEARCH. 47(1):134-43.
    PubMed ID: 16258167
  • Pappu A, Connor W, Merkens L, Jordan J, Penfield J, Illingworth D, Steiner R. (2006 December). Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. JOURNAL OF LIPID RESEARCH. 47(12):2789-98.
    PubMed ID: 16983147
  • Kishnani P, Hwu W, Mandel H, Nicolino M, Yong F, Corzo D,...Steiner R. (2006 May). A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. JOURNAL OF PEDIATRICS. 148(5):671-676.
    PubMed ID: 16737883
  • Hoffman J, Steiner R, Paradise L, Harding C, Ding L, Strauss A, Kaplan P. (2006 July). Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency. MILITARY MEDICINE. 171(7):657-8.
    PubMed ID: 16895136
  • American College of Medical Genetics Newborn Screening Expert Group, Steiner R. (2006 May). Newborn screening: toward a uniform screening panel and system--executive summary. PEDIATRICS. 117(5 Pt 2):S296-307.
    PubMed ID: 16735256
  • Steiner R, Martin L, Hume R. (2007). Smith Lemli Opitz syndrome eMedicine from WebMD www.emedicine.com/ped;/topiclist.htm.
  • Al-Uzri A, Steiner R. (2007). Oculocerebrorenal Dystrophy (Lowe Syndrome) eMedicine from WebMD www.emedicine.com/ped/topic1329.htm.
  • Haney E, Huffman L, Bougatsos C, Freeman M, Steiner R, Nelson H. (2007). Screening for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Evidence Review Agency for Healthcare, Research, and Quality. Http://www.ahrq.gov/clinic.uspstf07/chlipid/chlipidrev.
  • Hager E, Tse H, Piganelli J, Gupta M, Baetscher M, Tse T,...Gibson K. (2007 November). Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. JOURNAL OF INHERITED METABOLIC DISEASE. 30(6):888-95.
    PubMed ID: 18008182
  • Haney E, Huffman L, Bougatsos C, Freeman M, Steiner R, Nelson H. (2007 July). Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. PEDIATRICS. 120(1):e189-214.
    PubMed ID: 17606543
  • Moore T, Steiner R. (2008). Metachromatic Leukodystrophy eMedicine from WebMD www.emedicine.com/ped/topiclist.htm.
  • Steiner R, Baker P. (2008 November). Cerebrotendinous Xanthomatosis eMedicine from WebMD www.emedicine.com/ped/topic1418820.htm.
  • Guillaume D, Huhn S, Selden N, Steiner R. (2008 March). Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies Neurosurg Focus. 24(3-4):E21.
  • Selden N, Guillaume D, Steiner R, Huhn S. (2008 March). Cellular therapy for childhood neurodegenerative disease. Part II: clinical trial design and implementation Neurosurg Focus. 24(3-4):E22.
  • DeBarber A, Lutjohann D, Merkens L, Steiner R. (2008 October). Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol. ANALYTICAL BIOCHEMISTRY. 38(1):151-3.
    PubMed ID: 18555788
  • Kruer M, Steiner R. (2008 September). The role of evidence-based medicine and clinical trials in rare genetic disorders. CLINICAL GENETICS. 74(3):197-207.
    PubMed ID: 18657147
  • Potter N, Lazarus J, Johnson J, Steiner R, Shriberg L. (2008 August). Correlates of language impairment in children with galactosaemia. JOURNAL OF INHERITED METABOLIC DISEASE. 31(4):524-32.
    PubMed ID: 18649009
  • Whitley CB, Barranger J, Eng C, Davidson BL, Grabowski G, Muenzer J,...Wilcox W. (2008 February). Lysosomal Disease Network's "WORLD Symposium 2008" MOLECULAR GENETICS AND METABOLISM. 93(2):S3-5.
  • Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles E, Miranda M,...MPS VI Study Group. (2008 August). Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. MOLECULAR GENETICS AND METABOLISM. 94(4):469-75.
    PubMed ID: 18502162
  • Jenkins K, Merkens L, Tubb M, Myatt L, Davidson W, Steiner R, Woollett L. (2008 June). Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. MOLECULAR GENETICS AND METABOLISM. 94(2):240-7.
    PubMed ID: 18346920
  • Phillipi C, Remmington T, Steiner R. (2008 October). Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database of Systematic Reviews. (4):CD005088.
    PubMed ID: 18843680
  • Cupler E, Steiner R, Wasserstein M, Fenton C. (2009 October). Glycogen-Storage Disease Type V eMedicine from WebMD www.emedicine.medscape.com/article/946577-overview.
  • Basel D, Steiner R. (2009 June). Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. GENETICS IN MEDICINE. 11(6):375-85.
    PubMed ID: 19533842
  • Steiner R. (2009 June). Commentary on: "Newborn screening for Krabbe Disease: the New York state model" and "the long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York". GENETICS IN MEDICINE. 11(6):411-3.
    PubMed ID: 19436215
  • Merkens L, Wassif C, Healy K, Pappu A, DeBarber A, Penfield J,...Steiner R. (2009 May). Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. GENETICS IN MEDICINE. 11(5):359-64.
    PubMed ID: 19452638
  • West M, Nicholls K, Mehta A, Clarke J, Steiner R, Beck M,...Schiffmann R. (2009 May). Agalsidase alfa and kidney dysfunction in Fabry disease. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. 20(5):1132-9.
    PubMed ID: 19357250
  • Jones S, Almassy Z, Beck M, Burt K, Clarke J, Giugliani R,...Steiner R. (2009 August). Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). JOURNAL OF INHERITED METABOLIC DISEASE. 32(4):534-43.
    PubMed ID: 19597960
  • Merkens L, Jordan J, Penfield J, Lutjohann D, Connor W, Steiner R. (2009 April). Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. JOURNAL OF PEDIATRICS. 154(4):557-561.e1.
    PubMed ID: 19101685
  • Whitley CB, Barranger J, Eng C, Davidson B, Grabowski G, Kohler B,...Wilcox W. (2009 February). Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. MOLECULAR GENETICS AND METABOLISM. 96(2):S3-5.
    PubMed ID: 19083251
  • Araujo G, Christ S, Steiner R, Grange D, Nardos B, McKinstry R, White D. (2009 January). Response monitoring in children with phenylketonuria. NEUROPSYCHOLOGY. 23(1):130-4.
    PubMed ID: 19210041
  • Steiner R. (2009 April). Newborn Screening for Krabbe Disease: the New York State Model PEDIATRIC NEUROLOGY. 40(4):253-255.
  • Chan Y, Merkens L, Connor W, Roullet J, Penfield J, Jordan J,...Jones P. (2009 June). Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. PEDIATRIC RESEARCH. 65(6):681-5.
    PubMed ID: 19430384
  • McDonald A, Steiner R, Kuehl K, Turbeville S. (2010). Clinical utility of endurance measures for evaluation of treatment in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr Rehabil Med. 3(2):119-27.
    PubMed ID: 21791839
  • Decker C, Yu Z, Giugliani R, Schwartz I, Guffon N, Teles E,...Harmatz P. (2010). Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med. 3(2):89-100.
    PubMed ID: 20634905
  • McLarren K, Severson T, du Souich C, Stockton D, Kratz L, Cunningham D,...Boerkoel C. (2010 December). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. AMERICAN JOURNAL OF HUMAN GENETICS. 87(6):905-14.
    PubMed ID: 21129721
  • Lin D, Steiner R, Merkens L, Pappu A, Connor W. (2010 January). The effects of sterol structure upon sterol esterification. ATHEROSCLEROSIS. 208(1):155-60.
    PubMed ID: 19679306
  • DeBarber A, Connor W, Pappu A, Merkens L, Steiner R. (2010 January). ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. CLINICA CHIMICA ACTA. 411(1-2):43-8.
    PubMed ID: 19808031
  • Mendelsohn N, Harmatz P, Bodamer O, Burton B, Giugliani R, Jones S,...Hunter Outcome Survey Investigators. (2010 December). Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. GENETICS IN MEDICINE. 12(12):816-22.
    PubMed ID: 21045710
  • Harmatz P, Yu Z, Giugliani R, Schwartz I, Guffon N, Teles E,...Decker C. (2010 February). Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. JOURNAL OF INHERITED METABOLIC DISEASE. 33(1):51-60.
    PubMed ID: 20140523
  • Patel S, Steiner R. (2010 April). In Memoriam: William E. Connor (1921-2009). JOURNAL OF LIPID RESEARCH. 51(4):679-81.
    PubMed ID: 20936768
  • Burton B, Guffon N, Roberts J, van der Ploeg A, Jones S, HOS Investigators, Steiner R. (2010 October). Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey. MOLECULAR GENETICS AND METABOLISM. 101(2-3):123-9.
    PubMed ID: 20638311
  • White D, Connor L, Nardos B, Shimony J, Archer R, Snyder A,...McKinstry R. (2010). Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. MOLECULAR GENETICS AND METABOLISM. 99(Suppl 1):S41-6.
    PubMed ID: 20123469
  • DeBarber A, Eroglu Y, Merkens L, Pappu A, Steiner R. (2011 July). Smith-Lemli-Opitz syndrome. Expert Rev Mol Med. 13 :e24.
    PubMed ID: 21777499
  • Monson D, DeBarber A, Bock C, Anadiotis G, Merkens L, Steiner R, Stout A. (2011 August). Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Arch Ophthalmol. 129(8):1087-8.
    PubMed ID: 21825196
  • DeBarber A, Sandlers Y, Pappu A, Merkens L, Duell P, Lear S,...Steiner R. (2011 May). Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. J Chromatogr B Analyt Technol Biomed Life Sci. 879(17-18):1384-92.
    PubMed ID: 21168372
  • Kruer M, Steiner R. (2011). Lysosomal Storage Diseases eMedicine from WebMD www.emedicine.medscape.com/article/1182830-overview.
  • Cupler E, Steiner R, Wasserstein M, Fenton C. (2011). Genetics of Glycogen-Storage Disease Type V eMedicine from WebMD www.emedicine.medscape.com/article/946577-overview.
  • Steiner R, Arnold G. (2011). Phenylketonuria eMedicine from WebMD www.emedicine.medscape.com/article/947781-overview.
  • Steiner R. (2011). Smith-Lemli-Opitz Syndrome eMedicine from WebMD www.emedicine.medscape.com/article/949125-overview.
  • Sheehan W, Steiner R, Thurber S, du Souich C. (2011). Aberrant Cholesterol and Lipoprotein Levels in Aggressive Male Adolescents. WebmedCentral PSYCHIATRY. 2(10):WMC002346.
  • Banerjee P, Grange D, Steiner R, White D. (2011). Executive strategic processing during verbal fluency performance in children with phenylketonuria. CHILD NEUROPSYCHOLOGY. 17(2):105-17.
    PubMed ID: 21140312
  • Pyott S, Schwarze U, Christiansen H, Pepin M, Leistritz D, Dineen R,...Byers P. (2011 April). Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. HUMAN MOLECULAR GENETICS. 20(8):1595-609.
    PubMed ID: 21282188
  • Ward L, Rauch F, Whyte MP, D'Astous J, Gates P, Grogan D,...Glorieux F. (2011 February). Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. 96(2):355-64.
    PubMed ID: 21106710
  • Dickson P, Pariser A, Groft S, Ishihara R, McNeil D, Tagle D,...Patterson MC. (2011 March). Research challenges in central nervous system manifestations of inborn errors of metabolism. MOLECULAR GENETICS AND METABOLISM. 102(3):326-38.
    PubMed ID: 21176882
  • Ren G, Jacob R, Kaulin Y, Dimuzio P, Xie Y, Mason R,...Tulenko T. (2011 November). Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. MOLECULAR GENETICS AND METABOLISM. 104(3):346-55.
    PubMed ID: 21724437
  • Kwon J, Steiner R. (2011 August). "I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. NEUROLOGY. 77(6):522-3.
    PubMed ID: 21753177
  • Steiner L, Ehrenkranz R, Peterec S, Steiner R, Reyes-Mugica M, Gallagher P. (2011 July). Perinatal onset mevalonate kinase deficiency. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY. 14(4):301-6.
    PubMed ID: 21425920
  • Svoboda M, Christie J, Eroglu Y, Freeman K, Steiner R. (2012 November). Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am J Med Genet C Semin Med Genet. 160C(4):285-94.
    PubMed ID: 23042642
  • Al-Uzri A, Steiner R, Wasserstein M, Fenton C. (2012). Oculocerebrorenal Dystrophy (Lowe Syndrome) eMedicine from WebMD www.emedicine.medscape.com/article/946043-overview.
  • Ikeda A, Moore T, Steiner R. (2012). Metachromatic Leukodystrophy eMedicine from Web MD www.emedicine.medscape.com/article/951840-overview.
  • Janos A, Grange D, Steiner R, White D. (2012 November). Processing speed and executive abilities in children with phenylketonuria. NEUROPSYCHOLOGY. 26(6):735-43.
    PubMed ID: 22866986
  • Cox T, Amato D, Hollak C, Luzy C, Silkey M, Giorgino R,...Miglustat Maintenance Study Group. (2012 December). Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study. Orphanet Journal of Rare Diseases. 7 :102.
    PubMed ID: 23270487
  • Stevenson D, Steiner R. (2013 June). Skeletal abnormalities in lysosomal storage diseases. Pediatr Endocrinol Rev. 10 Suppl 2 :406-16.
    PubMed ID: 23858624
  • Kanungo S, Soares N, He M, Steiner R. (2013 June). Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev. 17(3):197-210.
    PubMed ID: 23798009
  • Selden N, Al-Uzri A, Huhn S, Koch T, Sikora D, Nguyen-Driver M,...Steiner R. (2013 June). Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. J Neurosurg Pediatr. 11(6):643-52.
    PubMed ID: 23581634
  • Merkens L, Myrie S, Steiner R. (2013 April). Mymin D: Sitosterolemia GeneReviews at GeneTests: Medical Genetics Information Resource http://www.genetests.org.
  • Kruer M, Jepperson T, Dutta S, Steiner R, Cottenie E, Sanford L,...Houlden H. (2013 December). Mutations in gamma adducin are associated with inherited cerebral palsy. Annals of Neurology. 74(6):805-14.
    PubMed ID: 23836506
  • Freeman K, Eagle R, Merkens L, Sikora D, Pettit-Kekel K, Nguyen-Driver M, Steiner R. (2013 March). Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. Cognitive and Behavioral Neurology. 26(1):23-9.
    PubMed ID: 23538569
  • Freeman K, Eagle R, Merkens L, Sikora D, Pettit-Kekel K, Nguyen-Driver M, Steiner R. (2013 March). Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. Cognitive and Behavioral Neurology. 26(1):23-9.
    PubMed ID: 23538569
  • Araujo G, Christ S, Grange D, Steiner R, Coleman C, Timmerman E, White D. (2013). Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. DEVELOPMENTAL NEUROPSYCHOLOGY. 38(3):139-52.
    PubMed ID: 23573793
  • Schiffmann R, Ries M, Blankenship D, Nicholls K, Mehta A, Clarke J,...Huertas P [including Steiner R.] (2013 December). Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa. GENETICS IN MEDICINE. 15(12):983-9.
    PubMed ID: 23680766
  • Schwarze U, Cundy T, Pyott S, Christiansen H, Hegde M, Bank R,...Byers P [including McPherson EW.] (2013 January). Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. HUMAN MOLECULAR GENETICS. 22(1):1-17.
    PubMed ID: 22949511
  • Roullet J, Merkens L, Pappu A, Jacobs M, Winter R, Connor W, Steiner R. (2013 September). No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. JOURNAL OF INHERITED METABOLIC DISEASE. 35(5):859-69.
    PubMed ID: 22391996
  • Hendriksz C, Giugliani R, Harmatz P, Lampe C, Martins A, Pastores GM,...CSP Study Group. (2013 March). Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). JOURNAL OF INHERITED METABOLIC DISEASE. 36(2):373-84.
    PubMed ID: 22127392
  • Liu W, Xu L, Lamberson C, Merkens L, Steiner R, Elias ER,...Porter N. (2013 January). Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. JOURNAL OF LIPID RESEARCH. 54(1):244-53.
    PubMed ID: 23072947
  • Bishop N, Adami S, Ahmed S, Anton J, Arundel P, Burren C,...Steiner R. (2013 October). Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 382(9902):1424-32.
    PubMed ID: 23927913
  • Banta-Wright S, Press N, Knafl K, Steiner R, Houck G. (2014 April). Breastfeeding Infants with Phenylketonuria in the United States and Canada. Breastfeed Med. 9 :142-8.
    PubMed ID: 24350704
  • Merkens MJ, Sinden NL, Brown CD, Merkens L, Roullet J, Nguyen T, Steiner R. (2014 October). Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. J Pediatr.. 165(4):836-41.
    PubMed ID: 25039049
  • Dwan K, Phillipi C, Steiner R, Basel D. (2014 July). Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev.. 7 :CD005088.
    PubMed ID: 25054949
  • Steiner R, Adsit J, Basel D. (2014). COL1A1/2-Related Osteogenesis Imperfecta Genereviews at Gene Tests: Medical Genetics Information Resource http://www.genetests.org.
  • DeBarber A, Luo J, Giugliani R, Souza C, Chiang J, Merkens L,...Steiner R. (2014 June). A useful multi-analyte blood test for cerebrotendinous xanthomatosis. CLINICAL BIOCHEMISTRY. 47(9):860-3.
    PubMed ID: 24769274
  • DeBarber A, Luo J, Star-Weinstock M, Purkayastha S, Geraghty M, Chiang J,...Steiner R. (2014 January). A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. JOURNAL OF LIPID RESEARCH. 55(1):146-54.
    PubMed ID: 24186955
  • Johnson L, Olsen R, Merkens L, Debarber A, Steiner R, Sullivan P,...Raber J. (2014 April). Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner. NEUROBIOLOGY OF DISEASE. 64 :150-62.
    PubMed ID: 24412220
  • Musser E, Hawkey E, Kachan-Liu S, Lees P, Roullet J, Goddard K,...Nigg J [including Steiner R.] (2014 July). Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders. JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY. 55(7):819-27.
    PubMed ID: 24444366
  • Banta-Wright S, Kodadek SM, Steiner R, Houck G. (2015 February). Challenges to Breastfeeding Infants With Phenylketonuria. J Pediatr Nurs. 30(1):219-26.
    PubMed ID: 24952998
  • Othman RA, Myrie S, Mymin D, Merkens L, Roullet J, Steiner R, Jones PJ. (2015 January). Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J Pediatr. 166(1):125-31.
    PubMed ID: 25444527
  • Schrodi SJ, Debarber A, He M, Ye Z, Peissig PL, VanWormer JJ,...Steiner R [including Haws RM., Brilliant MH.] (2015 June). Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. Hum Genet. 134(6):659-69.
    PubMed ID: 25893794
  • Haws RM., Krentz AD, Stankowski RV, Steiner R. (2015 June). Bardet-Biedl syndrome:A model for translational research in rare diseases. NewHorizonsinTranslationalMedicine. 2(2015):102-9.
  • Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ,...Chapman G [including Steiner RD.] Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Hum Mol Genet. 2020 December 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. PMCID: PMC7823106.
    PubMed ID: 33276377
  • Sinha P, Gabor R, Haupt-Harrington R, Deering L, Steiner RD. Dental manifestations in adult hypophosphatasia and their correlation with biomarkers. JIMD Rep. 2022 June 28;63(5):434-445. doi: 10.1002/jmd2.12307. PMCID: PMC9458606.
    PubMed ID: 36101824
  • Pak CM, Gilmore MJ, Bulkley JE, Chakraborty P, Dagan-Rosenfeld O, Foreman AKM,...Manickam K [including Steiner RD.] Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group. Genet Med. 2024 August;26(8):101164. doi: 10.1016/j.gim.2024.101164. PMCID: PMC11298308.
    PubMed ID: 38757444