Research output per year
Research output per year
- 49 results
Search results
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2024
Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies
Zaccai, T. C. F., Hassin-Baer, S., Kfir, N. C., Duell, P. B., Neerhof, M., Sloma, R., Roitman, M., Kisanuki, Y. Y., Verrips, A. & DeBarber, A. E., May 2024, In: Genetics in Medicine. 26, 5, 101086.Research output: Contribution to journal › Article › peer-review
Open Access -
Effect of PCSK9 inhibition on plasma levels of small dense low density lipoprotein-cholesterol and 7-ketocholesterol
Mahmood, T., Miles, J. R., Minnier, J., Tavori, H., DeBarber, A. E., Fazio, S. & Shapiro, M. D., Jan 1 2024, In: Journal of clinical lipidology. 18, 1, p. e50-e58Research output: Contribution to journal › Article › peer-review
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Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives
Steiner, R. D., DeBarber, A., Larson, A., Blanchard, B., Laurie, S., Odedara, N., Rosengrant, H. & Dutta, R., Feb 2024, In: Advances in Therapy. 41, 2, p. 467-475 9 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
2023
Apolipoprotein E Isoform-Related Translational Measures in PTSD Research
Torres, E. R. S., DeBarber, A. E. & Raber, J., 2023, Neuromethods. Humana Press Inc., p. 169-189 21 p. (Neuromethods; vol. 198).Research output: Chapter in Book/Report/Conference proceeding › Chapter
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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Vaz, F. M., Jamal, Y., Barto, R., Gelb, M. H., DeBarber, A. E., Wevers, R. A., Nelen, M. R., Verrips, A., Bootsma, A. H., Bouva, M. J., Kleise, N., van der Zee, W., He, T., Salomons, G. S. & Huidekoper, H. H., Jan 15 2023, In: Clinica Chimica Acta. 539, p. 170-174 5 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
2022
Apolipoprotein E Isoform-specific changes related to stress and trauma exposure
Torres, E. R. S., Luo, J., Boehnlein, J. K., Towns, D., Kinzie, J. D., DeBarber, A. E. & Raber, J., Dec 2022, In: Translational Psychiatry. 12, 1, 125.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
2021
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
Guenzel, A. J., DeBarber, A., Raymond, K. & Dhamija, R., 2021, In: JIMD Reports. 59, 1, p. 3-9 7 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis
Höflinger, P., Hauser, S., Yutuc, E., Hengel, H., Griffiths, L., Radelfahr, F., Howell, O. W., Wang, Y., Connor, S. L., Duell, P. B., DeBarber, A. E., Martus, P., Lütjohann, D., Griffiths, W. J. & Schöls, L., 2021, In: Journal of lipid research. 62, 100078.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Pregnancy and weaning regulate human maternal liver size and function
Bartlett, A. Q., Vesco, K. K., Purnell, J. Q., Francisco, M., Goddard, E., Guan, X., DeBarber, A., Leo, M. C., Baetscher, E., Rooney, W., Naugler, W., Guimaraes, A. R., Catalano, P., Xia, Z. & Schedin, P., Nov 30 2021, In: Proceedings of the National Academy of Sciences of the United States of America. 118, 48, e2107269118.Research output: Contribution to journal › Article › peer-review
Open Access19 Scopus citations -
Update on cerebrotendinous xanthomatosis
Debarber, A. E. & Duell, P. B., Apr 1 2021, In: Current opinion in lipidology. 32, 2, p. 123-131 9 p.Research output: Contribution to journal › Review article › peer-review
13 Scopus citations -
2020
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots
Hong, X., Daiker, J., Sadilek, M., DeBarber, A. E., Chiang, J., Duan, J., Bootsma, A. H., Huidekoper, H. H., Vaz, F. M. & Gelb, M. H., Oct 1 2020, In: Genetics in Medicine. 22, 10, p. 1606-1612 7 p.Research output: Contribution to journal › Article › peer-review
Open Access19 Scopus citations -
2019
Prevalence of Cerebrotendinous Xanthomatosis among Patients Diagnosed with Acquired Juvenile-Onset Idiopathic Bilateral Cataracts
Freedman, S. F., Brennand, C., Chiang, J., Debarber, A., Del Monte, M. A., Duell, P. B., Fiorito, J. & Marshall, R., Nov 2019, In: JAMA ophthalmology. 137, 11, p. 1312-1316 5 p.Research output: Contribution to journal › Article › peer-review
Open Access23 Scopus citations -
2018
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
Duell, P. B., Salen, G., Eichler, F. S., DeBarber, A. E., Connor, S. L., Casaday, L., Jayadev, S., Kisanuki, Y., Lekprasert, P., Malloy, M. J., Ramdhani, R. A., Ziajka, P. E., Quinn, J. F., Su, K. G., Geller, A. S., Diffenderfer, M. R. & Schaefer, E. J., Sep 1 2018, In: Journal of clinical lipidology. 12, 5, p. 1169-1178 10 p.Research output: Contribution to journal › Article › peer-review
Open Access81 Scopus citations -
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, P. J., Yutuc, E., DeBarber, A. E., Duell, P. B., Steiner, R. D., Laina, I., Wang, Y. & Griffiths, W. J., Oct 2018, In: Biochimie. 153, p. 86-98 13 p.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Intravenous Fish Oil and Pediatric Intestinal Failure–Associated Liver Disease: Changes in Plasma Phytosterols, Cytokines, and Bile Acids and Erythrocyte Fatty Acids
Calkins, K. L., DeBarber, A., Steiner, R. D., Flores, M. J., Grogan, T. R., Henning, S. M., Reyen, L. & Venick, R. S., Mar 2018, In: Journal of Parenteral and Enteral Nutrition. 42, 3, p. 633-641 9 p.Research output: Contribution to journal › Article › peer-review
Open Access27 Scopus citations -
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment
DeBarber, A. E., Kalfon, L., Fedida, A., Sheffer, V. F., Haroush, S. B., Chasnyk, N., Biton, E. S., Mandel, H., Jeffries, K., Shinwell, E. S. & Falik-Zaccai, T. C., 2018, In: Journal of lipid research. 59, 11, p. 2214-2222 9 p.Research output: Contribution to journal › Article › peer-review
Open Access26 Scopus citations -
2017
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
Vaz, F. M., Bootsma, A. H., Kulik, W., Verrips, A., Wevers, R. A., Schielen, P. C., DeBarber, A. E. & Huidekoper, H. H., May 2017, In: Journal of lipid research. 58, 5, p. 1002-1007 6 p.Research output: Contribution to journal › Article › peer-review
Open Access23 Scopus citations -
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts
Tibrewal, S., Duell, P. B., DeBarber, A. E. & Loh, A. R., Dec 2017, In: Journal of AAPOS. 21, 6, p. 505-507 3 p.Research output: Contribution to journal › Article › peer-review
14 Scopus citations -
Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe
Othman, R. A., Myrie, S. B., Mymin, D., Roullet, J. B., DeBarber, A. E., Steiner, R. D. & Jones, P. J. H., Sep 2017, In: Journal of Pediatrics. 188, p. 198-204.e1Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
2016
Concentration accuracy of compounded mitomycin C for ophthalmic surgery
Kinast, R. M., Akula, K. K., Mansberger, S. L., Barker, G. T., Gardiner, S. K., Whitson, E. & DeBarber, A. E., Feb 2016, In: JAMA ophthalmology. 134, 2, p. 191-195 5 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
The degradation of mitomycin C under various storage methods
Kinast, R. M., Akula, K. K., Debarber, A. E., Barker, G. T., Gardiner, S. K., Whitson, E. & Mansberger, S. L., 2016, In: Journal of Glaucoma. 25, 6, p. 477-481 5 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method
Bleyle, L., Huidekoper, H. H., Vaz, F. M., Singh, R., Steiner, R. D. & Debarber, A. E., Jun 1 2016, In: Molecular Genetics and Metabolism Reports. 7, p. 11-15 5 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Scopus citations -
2015
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, A. E., Bir, N., Binkley, L., Merkens, L. S., Steiner, R. D. & Herman, G. E., May 15 2015, In: Human molecular genetics. 24, 10, p. 2808-2825 18 p.Research output: Contribution to journal › Article › peer-review
Open Access29 Scopus citations -
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes
Appadurai, V., DeBarber, A., Chiang, P. W., Patel, S. B., Steiner, R. D., Tyler, C. & Bonnen, P. E., 2015, In: Molecular Genetics and Metabolism. 116, 4, p. 298-304 7 p.Research output: Contribution to journal › Article › peer-review
Open Access73 Scopus citations -
Look carefully to the heels! A potentially treatable cause of spastic paraplegia
Saute, J. A., Giugliani, R., Merkens, L. S., Chiang, J., DeBarber, A. E. & de Souza, C. F. M., Mar 2015, In: Journal of inherited metabolic disease. 38, 2, p. 363-364 2 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data
Schrodi, S. J., DeBarber, A., He, M., Ye, Z., Peissig, P., Van Wormer, J. J., Haws, R., Brilliant, M. H. & Steiner, R. D., Jun 1 2015, In: Human genetics. 134, 6, p. 659-669 11 p.Research output: Contribution to journal › Article › peer-review
22 Scopus citations -
2014
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns
DeBarber, A. E., Luo, J., Star-Weinstock, M., Purkayastha, S., Geraghty, M. T., Chiang, J., Merkens, L. S., Pappu, A. S. & Steiner, R. D., Jan 2014, In: Journal of lipid research. 55, 1, p. 146-154 9 p.Research output: Contribution to journal › Article › peer-review
Open Access39 Scopus citations -
Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner
Johnson, L. A., Olsen, R. H. J., Merkens, L. S., DeBarber, A., Steiner, R. D., Sullivan, P. M., Maeda, N. & Raber, J., Apr 2014, In: Neurobiology of Disease. 64, p. 150-162 13 p.Research output: Contribution to journal › Article › peer-review
Open Access60 Scopus citations -
A useful multi-analyte blood test for cerebrotendinous xanthomatosis
DeBarber, A. E., Luo, J., Giugliani, R., Souza, C. F. M., Chiang, J., Merkens, L. S., Pappu, A. S. & Steiner, R. D., Jun 2014, In: Clinical Biochemistry. 47, 9, p. 860-863 4 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Scopus citations -
A US perspective on newborn screening: A powerful tool for prevention
DeBarber, A. E. & Steiner, R. D., Nov 1 2014, In: Expert Opinion on Orphan Drugs. 2, 11, p. 1151-1157 7 p.Research output: Contribution to journal › Article › peer-review
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2012
Liver X receptor modulation of gene expression leading to proluteolytic effects in primate luteal cells
Bogan, R. L., Debarber, A. E. & Hennebold, J. D., Mar 1 2012, In: Biology of reproduction. 86, 3, 89.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
2011
Cerebrotendinous xanthomatosis: A treatable disease with juvenile cataracts as a presenting sign
Monson, D. M., DeBarber, A. E., Bock, C. J., Anadiotis, G., Merkens, L. S., Steiner, R. D. & Stout, A. U., Aug 2011, In: Archives of ophthalmology. 129, 8, p. 1087-1088 2 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
Determination of cortisol production rates with contemporary liquid chromatography-mass spectrometry to measure cortisol-d3 dilution after infusion of deuterated tracer
Klopfenstein, B. J., Purnell, J. Q., Brandon, D. D., Isabelle, L. M. & DeBarber, A. E., Apr 2011, In: Clinical Biochemistry. 44, 5-6, p. 430-434 5 p.Research output: Contribution to journal › Article › peer-review
Open Access15 Scopus citations -
Profiling sterols in cerebrotendinous xanthomatosis: Utility of Girard derivatization and high resolution exact mass LC-ESI-MSn analysis
DeBarber, A. E., Sandlers, Y., Pappu, A. S., Merkens, L. S., Duell, P. B., Lear, S. R., Erickson, S. K. & Steiner, R. D., May 15 2011, In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 879, 17-18, p. 1384-1392 9 p.Research output: Contribution to journal › Article › peer-review
Open Access37 Scopus citations -
Smith-Lemli-Opitz syndrome.
DeBarber, A. E., Eroglu, Y., Merkens, L. S., Pappu, A. & Steiner, R. D., 2011, In: Expert reviews in molecular medicine. 13, p. e24Research output: Contribution to journal › Review article › peer-review
Open Access75 Scopus citations -
2010
ESI-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis
DeBarber, A. E., Connor, W. E., Pappu, A. S., Merkens, L. S. & Steiner, R. D., Jan 4 2010, In: Clinica Chimica Acta. 411, 1-2, p. 43-48 6 p.Research output: Contribution to journal › Article › peer-review
34 Scopus citations -
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
McLarren, K. W., Severson, T. M., Du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., Chou, A., Debarber, A. E., Merkens, L. S., Michaud, J. L., Waters, P. J., Yin, J., McGillivray, B., Demos, M., & 20 others, Dec 10 2010, In: American Journal of Human Genetics. 87, 6, p. 905-914 10 p.Research output: Contribution to journal › Article › peer-review
Open Access50 Scopus citations -
2009
Iodothyronamines are oxidatively deaminated to iodothyroacetic acids in vivo
Wood, W. J. L., Geraci, T., Nilsen, A., DeBarber, A. E. & Scanlan, T. S., Jan 26 2009, In: ChemBioChem. 10, 2, p. 361-365 5 p.Research output: Contribution to journal › Article › peer-review
Open Access46 Scopus citations -
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
Merkens, L. S., Wassif, C., Healy, K., Pappu, A. S., DeBarber, A. E., Penfield, J. A., Lindsay, R. A., Roullet, J. B., Porter, F. D. & Steiner, R. D., May 2009, In: Genetics in Medicine. 11, 5, p. 359-364 6 p.Research output: Contribution to journal › Article › peer-review
Open Access14 Scopus citations -
2008
3-Iodothyronamine: A novel hormone controlling the balance between glucose and lipid utilisation
Braulke, L. J., Klingenspor, M., DeBarber, A., Tobias, S. C., Grandy, D. K., Scanlan, T. S. & Heldmaier, G., Feb 2008, In: Journal of Comparative Physiology B: Biochemical, Systemic, and Environmental Physiology. 178, 2, p. 167-177 11 p.Research output: Contribution to journal › Article › peer-review
114 Scopus citations -
Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol
DeBarber, A. E., Lütjohann, D., Merkens, L. & Steiner, R. D., Oct 1 2008, In: Analytical Biochemistry. 381, 1, p. 151-153 3 p.Research output: Contribution to journal › Article › peer-review
Open Access42 Scopus citations -
Soluble epoxide hydrolase gene deletion is protective against experimental cerebral ischemia.
Zhang, W., Otsuka, T., Sugo, N., Ardeshiri, A., Alhadid, Y. K., Iliff, J. J., DeBarber, A. E., Koop, D. R. & Alkayed, N. J., Jul 2008, In: Stroke; a journal of cerebral circulation. 39, 7, p. 2073-2078 6 p.Research output: Contribution to journal › Article › peer-review
Open Access156 Scopus citations -
Validation of a liquid chromatography-tandem mass spectrometry method to enable quantification of 3-iodothyronamine from serum
DeBarber, A. E., Geraci, T., Colasurdo, V. P., Hackenmueller, S. A. & Scanlan, T. S., Nov 7 2008, In: Journal of Chromatography A. 1210, 1, p. 55-59 5 p.Research output: Contribution to journal › Article › peer-review
Open Access17 Scopus citations -
2007
Cardiac effects of 3-iodothyronamine: A new aminergic system modulating cardiac function
Chiellini, G., Frascarelli, S., Ghelardoni, S., Carnicelli, V., Tobias, S. C., DeBarber, A., Brogioni, S., Ronca-Testoni, S., Cerbai, E., Grandy, D. K., Scanlan, T. S. & Zucchi, R., May 2007, In: FASEB Journal. 21, 7, p. 1597-1608 12 p.Research output: Contribution to journal › Article › peer-review
116 Scopus citations -
Polymorphisms in the human soluble epoxide hydrolase gene EPHX2 linked to neuronal survival after ischemic injury
Koerner, I. P., Jacks, R., DeBarber, A. E., Koop, D., Mao, P., Grant, D. F. & Alkayed, N. J., Apr 25 2007, In: Journal of Neuroscience. 27, 17, p. 4642-4649 8 p.Research output: Contribution to journal › Article › peer-review
Open Access111 Scopus citations -
2004
ω-Hydroxylation of farnesol by mammalian cytochromes P450
DeBarber, A. E., Bleyle, L. A., Roullet, J. B. O. & Koop, D. R., Jun 1 2004, In: Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids. 1682, 1-3, p. 18-27 10 p.Research output: Contribution to journal › Article › peer-review
37 Scopus citations -
2003
Analysis of differential substrate selectivities of CYP2B6 and CYP2E1 by site-directed mutagenesis and molecular modeling
Spatzenegger, M., Liu, H., Wang, Q., Debarber, A., Koop, D. R. & Halpert, J. R., Jan 1 2003, In: Journal of Pharmacology and Experimental Therapeutics. 304, 1, p. 477-487 11 p.Research output: Contribution to journal › Article › peer-review
68 Scopus citations -
Unique Mechanism of Action of the Thiourea Drug Isoxyl on Mycobacterium tuberculosis
Phetsuksiri, B., Jackson, M., Scherman, H., McNeil, M., Besra, G. S., Baulard, A. R., Slayden, R. A., DeBarber, A. E., Barry, C. E., Baird, M. S., Crick, D. C. & Brennan, P. J., Dec 26 2003, In: Journal of Biological Chemistry. 278, 52, p. 53123-53130 8 p.Research output: Contribution to journal › Article › peer-review
Open Access141 Scopus citations -
2000
Ethionamide activation and sensitivity in multidrug-resistant Mycobacterium tuberculosis
DeBarber, A. E., Mdluli, K., Bosman, M., Bekker, L. G. & Barry, C. E., Aug 15 2000, In: Proceedings of the National Academy of Sciences of the United States of America. 97, 17, p. 9677-9682 6 p.Research output: Contribution to journal › Article › peer-review
Open Access318 Scopus citations