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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.

Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH; Members of the BBD Consortium, Nagamani SCS, Raggio C.

Am J Med Genet A. 2019 Dec 26. doi: 10.1002/ajmg.a.61464. [Epub ahead of print]


COL1A1/2 Osteogenesis Imperfecta.

Steiner RD, Basel D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2005 Jan 28 [updated 2019 Dec 12].


A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.

Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC, Raggio CL.

JBMR Plus. 2019 Jan 7;3(5):e10118. doi: 10.1002/jbm4.10118. eCollection 2019 May.


Mobility in osteogenesis imperfecta: a multicenter North American study.

Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF.

Genet Med. 2019 Oct;21(10):2311-2318. doi: 10.1038/s41436-019-0491-4. Epub 2019 Mar 28.


Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.

Miller M, Musser ED, Young GS, Olson B, Steiner RD, Nigg JT.

JAMA Pediatr. 2019 Feb 1;173(2):147-152. doi: 10.1001/jamapediatrics.2018.4076.


Genetics in Medicine at Twenty.

Steiner RD.

Genet Med. 2019 Jan;21(1):38-40. doi: 10.1038/s41436-018-0354-4. Epub 2018 Nov 14. No abstract available.


Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

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.

Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649.


ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

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.

Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.


Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.

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.

Genet Med. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5.


A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.

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.

Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24.


Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.

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.

Genet Med. 2019 Feb;21(2):275-283. doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4.


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.

Abdel-Khalik J, Crick PJ, Yutuc E, DeBarber AE, Duell PB, Steiner RD, Laina I, Wang Y, Griffiths WJ.

Biochimie. 2018 Oct;153:86-98. doi: 10.1016/j.biochi.2018.06.020. Epub 2018 Jun 28.



Merkens LS, Myrie SB, Steiner RD, Mymin D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2013 Apr 4 [updated 2018 May 17].


Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).

Salen G, Steiner RD.

J Inherit Metab Dis. 2017 Nov;40(6):771-781. doi: 10.1007/s10545-017-0093-8. Epub 2017 Oct 4. Review.


Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.

Othman RA, Myrie SB, Mymin D, Roullet JB, DeBarber AE, Steiner RD, Jones PJH.

J Pediatr. 2017 Sep;188:198-204.e1. doi: 10.1016/j.jpeds.2017.05.049. Epub 2017 Jun 16.


Intravenous Fish Oil and Pediatric Intestinal Failure-Associated Liver Disease: Changes in Plasma Phytosterols, Cytokines, and Bile Acids and Erythrocyte Fatty Acids.

Calkins KL, DeBarber A, Steiner RD, Flores MJ, Grogan TR, Henning SM, Reyen L, Venick RS.

JPEN J Parenter Enteral Nutr. 2018 Mar;42(3):633-641. doi: 10.1177/0148607117709196. Epub 2017 Dec 18.


Normal IQ is possible in Smith-Lemli-Opitz syndrome.

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.

Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27.


Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia.

Othman RA, Myrie SB, Mymin D, Roullet JB, Steiner RD, Jones PJH.

Atherosclerosis. 2017 May;260:27-33. doi: 10.1016/j.atherosclerosis.2017.03.015. Epub 2017 Mar 10.


Use of Imaging in Children With Witnessed Physical Abuse.

Melville JD, Hertz SK, Steiner RD, Lindberg DM; ExSTRA Investigators.

Pediatr Emerg Care. 2019 Apr;35(4):245-248. doi: 10.1097/PEC.0000000000001096.


Maternal prepregnancy body mass index and offspring attention-deficit/hyperactivity disorder: a quasi-experimental sibling-comparison, population-based design.

Musser ED, Willoughby MT, Wright S, Sullivan EL, Stadler DD, Olson BF, Steiner RD, Nigg JT.

J Child Psychol Psychiatry. 2017 Mar;58(3):240-247. doi: 10.1111/jcpp.12662. Epub 2016 Nov 30.


Bisphosphonate therapy for osteogenesis imperfecta.

Dwan K, Phillipi CA, Steiner RD, Basel D.

Cochrane Database Syst Rev. 2016 Oct 19;10:CD005088. Review.


Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.

Bleyle L, Huidekoper HH, Vaz FM, Singh R, Steiner RD, DeBarber AE.

Mol Genet Metab Rep. 2016 Mar 12;7:11-5. doi: 10.1016/j.ymgmr.2016.02.002. eCollection 2016 Jun.


A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.

Freeman KA, Olufs E, Tudor M, Roullet JB, Steiner RD.

J Dev Behav Pediatr. 2016 Jun;37(5):424-30. doi: 10.1097/DBP.0000000000000317.


Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

Renner C, Connor WE, Steiner RD.

Clin Med Res. 2016 Jun;14(2):103-8. doi: 10.3121/cmr.2016.1294. Epub 2016 May 26.


A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II.

Shapiro EG, Rudser K, Ahmed A, Steiner RD, Delaney KA, Yund B, King K, Kunin-Batson A, Eisengart J, Whitley CB.

Mol Genet Metab Rep. 2016 Apr 1;7:32-9. doi: 10.1016/j.ymgmr.2016.03.005. eCollection 2016 Jun.


Clinical course of sly syndrome (mucopolysaccharidosis type VII).

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.

J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23.


Inborn Errors of Metabolism (Metabolic Disorders).

Rice GM, Steiner RD.

Pediatr Rev. 2016 Jan;37(1):3-15; quiz 16-7, 47. doi: 10.1542/pir.2014-0122.


Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, Bonnen PE.

Mol Genet Metab. 2015 Dec;116(4):298-304. doi: 10.1016/j.ymgme.2015.10.010. Epub 2015 Oct 26.


Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.

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.

Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1.


Commitment to Breastfeeding in the Context of Phenylketonuria.

Banta-Wright SA, Kodadek SM, Houck GM, Steiner RD, Knafl KA.

J Obstet Gynecol Neonatal Nurs. 2015 Nov-Dec;44(6):726-36. doi: 10.1111/1552-6909.12750. Epub 2015 Sep 24.


Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.

Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):61-8. doi: 10.1016/j.ymgme.2015.06.002. Epub 2015 Jun 17.


Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.

Schrodi SJ, DeBarber A, He M, Ye Z, Peissig P, Van Wormer JJ, Haws R, Brilliant MH, Steiner RD.

Hum Genet. 2015 Jun;134(6):659-69. doi: 10.1007/s00439-015-1551-8. Epub 2015 Apr 19.


Genetics of familial hypercholesterolemia.

Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S.

Curr Atheroscler Rep. 2015 Apr;17(4):491. doi: 10.1007/s11883-015-0491-z. Review.


Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Cunningham D, DeBarber AE, Bir N, Binkley L, Merkens LS, Steiner RD, Herman GE.

Hum Mol Genet. 2015 May 15;24(10):2808-25. doi: 10.1093/hmg/ddv042. Epub 2015 Feb 4.


Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia.

Othman RA, Myrie SB, Mymin D, Merkens LS, Roullet JB, Steiner RD, Jones PJ.

J Pediatr. 2015 Jan;166(1):125-31. doi: 10.1016/j.jpeds.2014.08.069. Epub 2014 Oct 16.


Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.

Chang S, Ren G, Steiner RD, Merkens L, Roullet JB, Korade Z, DiMuzio PJ, Tulenko TN.

Mol Genet Metab Rep. 2014;1:431-442.


Bisphosphonate therapy for osteogenesis imperfecta.

Dwan K, Phillipi CA, Steiner RD, Basel D.

Cochrane Database Syst Rev. 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. Review. Update in: Cochrane Database Syst Rev. 2016 Oct 19;10 :CD005088.


Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.

Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD.

J Pediatr. 2014 Oct;165(4):836-41.e1. doi: 10.1016/j.jpeds.2014.06.010. Epub 2014 Jul 16.


Challenges to breastfeeding infants with phenylketonuria.

Banta-Wright SA, Kodadek SM, Steiner RD, Houck GM.

J Pediatr Nurs. 2015 Jan-Feb;30(1):219-26. doi: 10.1016/j.pedn.2014.05.003. Epub 2014 May 17.


A useful multi-analyte blood test for cerebrotendinous xanthomatosis.

DeBarber AE, Luo J, Giugliani R, Souza CF, Chiang JP, Merkens LS, Pappu AS, Steiner RD.

Clin Biochem. 2014 Jun;47(9):860-3. doi: 10.1016/j.clinbiochem.2014.04.017. Epub 2014 Apr 21.


A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR.

Clin Genet. 2015 Feb;87(2):133-40. doi: 10.1111/cge.12409. Epub 2014 May 30.


Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders.

Musser ED, Hawkey E, Kachan-Liu SS, Lees P, Roullet JB, Goddard K, Steiner RD, Nigg JT.

J Child Psychol Psychiatry. 2014 Jul;55(7):819-27. doi: 10.1111/jcpp.12201. Epub 2014 Jan 21.


Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner.

Johnson LA, Olsen RH, Merkens LS, DeBarber A, Steiner RD, Sullivan PM, Maeda N, Raber J.

Neurobiol Dis. 2014 Apr;64:150-62. doi: 10.1016/j.nbd.2013.12.016. Epub 2014 Jan 9.


Breastfeeding infants with phenylketonuria in the United States and Canada.

Banta-Wright SA, Press N, Knafl KA, Steiner RD, Houck GM.

Breastfeed Med. 2014 Apr;9(3):142-8. doi: 10.1089/bfm.2013.0092. Epub 2013 Dec 18.



Fitzgerald J, Holden P, Wright H, Wilmot B, Hata A, Steiner RD, Basel D.

J Rare Disord. 2013 Dec;1(2):37-42.


A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.

DeBarber AE, Luo J, Star-Weinstock M, Purkayastha S, Geraghty MT, Chiang JP, Merkens LS, Pappu AS, Steiner RD.

J Lipid Res. 2014 Jan;55(1):146-54. doi: 10.1194/jlr.P043273. Epub 2013 Nov 2.


Prospects for stem cell therapy in neuronal ceroid lipofuscinosis.

Kruer MC, Pearce DA, Orchard PJ, Steiner RD.

Regen Med. 2013 Sep;8(5):527-9. doi: 10.2217/rme.13.46. No abstract available.


Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

Bishop N, Adami S, Ahmed SF, Antón J, Arundel P, Burren CP, Devogelaer JP, Hangartner T, Hosszú E, Lane JM, Lorenc R, Mäkitie O, Munns CF, Paredes A, Pavlov H, Plotkin H, Raggio CL, Reyes ML, Schoenau E, Semler O, Sillence DO, Steiner RD.

Lancet. 2013 Oct 26;382(9902):1424-32. doi: 10.1016/S0140-6736(13)61091-0. Epub 2013 Aug 6.


Skeletal abnormalities in lysosomal storage diseases.

Stevenson DA, Steiner RD.

Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:406-16. Review.


Mutations in γ adducin are associated with inherited cerebral palsy.

Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisán-Ruiz C, Houlden H.

Ann Neurol. 2013 Dec;74(6):805-14. doi: 10.1002/ana.23971.

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