Publications

This list includes:

  • Clinical laboratory methods developed in-house
  • Original research performed in our labs
  • Analytical work performed for clients from both industry and academia

2014-2015 | 2011-2013 | 2006-2010 | 2001-2005

Driver AM, Kratz LE, Kelley RI, Stottmann RW. Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain. Neurobiol Dis. 2016 Jul;91:69-82. doi: 10.1016/j.nbd.2016.02.017. Epub 2016 Feb 24. PubMed PMID: 26921468; PubMed Central PMCID: PMC4860088.

Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV. A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy. Br J Clin Pharmacol. 2016 Jun;81(6):1058-66. doi: 10.1111/bcp.12897. Epub 2016 Apr 3. PubMed PMID: 26836218.

Edmunds LR, Otero PA, Sharma L, D'Souza S, Dolezal JM, David S, Lu J, Lamm L, Basantani M, Zhang P, Sipula IJ, Li L, Zeng X, Ding Y, Ding F, Beck ME, Vockley J, Monga SP, Kershaw EE, O'Doherty RM, Kratz LE, Yates NA, Goetzman EP, Scott D, Duncan AW, Prochownik EV. Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes. Oncotarget. 2016 Apr 20. doi: 10.18632/oncotarget.8856. [Epub ahead of print] PubMed PMID: 27105497.

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Review. PubMed PMID: 26750748.

Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones RO, Moser A, Wangler MF. A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey. Mol Genet Metab Rep. 2015 Dec 1;5:15-18. PubMed PMID: 26644994; PubMed Central PMCID: PMC4669579.

Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS. Brain endothelial dysfunction in cerebral adrenoleukodystrophy. Brain. 2015 Nov;138(Pt 11):3206-20. doi: 10.1093/brain/awv250. Epub 2015 Sep 15. PubMed PMID: 26377633; PubMed Central PMCID: PMC4731416.

Gabitova L, Restifo D, Gorin A, Manocha K, Handorf E, Yang DH, Cai KQ, Klein-Szanto AJ, Cunningham D, Kratz LE, Herman GE, Golemis EA, Astsaturov I. Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR. Cell Rep. 2015 Sep 22;12(11):1927-38. doi: 10.1016/j.celrep.2015.08.023. Epub 2015 Sep 3. PubMed PMID: 26344763; PubMed Central PMCID: PMC4581991.

Wang XM, Yik WY, Zhang P, Lu W, Huang N, Kim BR, Shibata D, Zitting M, Chow RH, Moser AB, Steinberg SJ, Hacia JG. Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. Stem Cell Res Ther. 2015 Aug 29;6:158. doi: 10.1186/s13287-015-0149-3. PubMed PMID: 26319495; PubMed Central PMCID: PMC4553005.

Venn-Watson SK, Parry C, Baird M, Stevenson S, Carlin K, Daniels R, Smith CR, Jones R, Wells RS, Ridgway S, Jensen ED. (2015). Increased Dietary Intake of Saturated Fatty Acid Heptadecanoic Acid (C17:0) Associated with Decreasing Ferritin and Alleviated Metabolic Syndrome in Dolphins. PLoS One, 10(7), e0132117.

Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS. (2015). Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Molecular Therapy, 23(5), 824-34.

Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. (2015). Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. American Journal of Medical Genetics. Part A, 167(6), 1309-1314.

Dorninger F, Brodde A, Braverman NE, Moser AB, Just WW, Forss-Petter S, Brügger B, Berger J. (2015). Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens. Biochimica et Biophysica Acta, 1851(2), 117-128.

Kataria Y, Wright M, Deaton RJ, Rueter EE, Rybicki BA, Moser AB, Ananthanrayanan V, Gann PH. (2015). Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate. Prostate, 75(2), 200-210.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S. (2015). Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism, 114(1), 46-50.

Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gökcay G, Wanders RJ, Valle D. (2015). A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Human Molecular Genetics, 24(2), 361-370.

Wang RY, Monuki ES, Powers J, Schwartz PH, Watkins PA, Shi Y, Moser A, Shrier DA, Waterham HR, Nugent DJ, Abdenur JE. (2014). Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study. Journal of Inherited Metabolic Disease, 37(5), 791-799.

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH. (2014). Serum phytanic and pristanic acid levels and prostate cancer risk in Finnish smokers. Cancer Medicine, 3(6), 1562-1569.

Walter KM, Schönenberger MJ, Trötzmüller M, Horn M, Elsässer HP, Moser AB, Lucas MS, Schwarz T, Gerber PA, Faust PL, Moch H, Köfeler HC, Krek W, Kovacs WJ. (2014). Hif-2α promotes degradation of mammalian peroxisomes by selective autophagy. Cell Metabolism, 20(5), 882-897.

DeFilippis AP, Rai SN, Cambon A, Miles RJ, Jaffe AS, Moser AB, Jones RO, Bolli R, Schulman SP. (2014). Fatty acids and TxA(2) generation, in the absence of platelet-COX-1 activity. Nutrition, Metabolism, and Cardiovascular Diseases: NMCD, 24(4), 428-433.

Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF. (2014). Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders. Orphanet Journal of Rare Diseases, 9, 94.

Vernon HJ, Sandlers Y, McClellan R, Kelley RI. (2014). Clinical laboratory studies in Barth Syndrome. Molecular Genetics and Metabolism, 112(2), 143-147.

Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD. (2014). Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. Journal of Inherited Metabolic Disease, 37(3), 415-420.

Hiebler S, Masuda T, Hacia JG, Moser AB, Faust PL, Liu A, Chowdhury N, Huang N, Lauer A, Bennett J, Watkins PA, Zack DJ, Braverman NE, Raymond GV, Steinberg SJ. (2014). The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. Molecular Genetics and Metabolism, 111(4), 522-532.

Ribbens JJ, Moser AB, Hubbard WC, Bongarzone ER, Maegawa GH. (2014). Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease. Molecular Genetics and Metabolism, 111(2), 172-183.

Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV. (2014). Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible. Molecular Genetics and Metabolism, 111(1), 55-57.

Contact Information

Address:

Kennedy Krieger Institute Genetics Laboratories
707 North Broadway
Room 500R
Baltimore, MD 21205

Billing Information:

Kennedy Krieger Institute Genetics Lab Billing Department
Attn: Ann Snitcher
Phone: (443) 923-2788
Fax: (443) 923-2755

Tax ID: 52-1524965
NPI Number1649595141

Announcements

Our CAP accreditation has been extended until June 30, 2017.

View current accreditation certificate

As of July 1, 2015, all cytogenetics testing has been transferred to Johns Hopkins Hospital. For more information about cytogenetics testing, please contact them at 443-923-2785.