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
Miyazaki C, Saitoh M, Itoh M, Yamashita S, Miyagishi M, Takashima S, Moser AB, Iwamori M, Mizuguchi M. (2013). Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. Neuroscience Letters, 552, 71-75.
Gauthier N, Wu JW, Wang SP, Allard P, Mamer OA, Sweetman L, Moser AB, Kratz L, Alvarez F, Robitaille Y, Lépine F, Mitchell GA. (2013). A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern. PLoS One, 8(7), e60581. doi: 10.1371/journal.pone.0060581.
Moser AB, Hey J, Dranchak PK, Karaman MW, Zhao J, Cox LA, Ryder OA, Hacia JG. (2013). Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells. Lipids in Health and Disease, 12, 10.
Sukhanova A, Gorin A, Serebriiskii IG, Gabitova L, Zheng H, Restifo D, Egleston BL, Cunningham D, Bagnyukova T, Liu H, Nikonova A, Adams GP, Zhou Y, Yang DH, Mehra R, Burtness B, Cai KQ, Klein-Szanto A, Kratz LE, Kelley RI, Weiner LM, Herman GE, Golemis EA, Astsaturov I. (2013). Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation. Cancer Discovery, 3(1), 96-111.
Clark PJ, Thompson AJ, Vock DM, Kratz LE, Tolun AA, Muir AJ, McHutchison JG, Subramanian M, Millington DM, Kelley RI, Patel K. (2012). Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype specific manner. Hepatology, 56(1), 49-56.
Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV. (2012). Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism, 105(3), 416-420.
Herman GE, Kratz L. (2012). Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160C(4), 301-321.
Braverman NE, Moser AB. (2012). Functions of plasmalogen lipids in health and disease. Biochimica et Biophysica Acta, 1822(9), 1442-1452.
Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM, Wanders RJ, Poll-The BT, Kemp S. (2012). Bezafibrate for X-linked adrenoleukodystrophy. PLoS One, 7(7), e41013.
Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR. (2011). Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. PLoS Genetics, 7(9), e1002224.
Moser AB, Steinberg SJ, Watkins PA, Moser HW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG. (2011). Human and great ape red blood cells differ in plasmalogen levels and composition. Lipids in Health and Disease, 10, 101.
Yi SH, Kable JA, Evatt ML, Singh RH. (2011). A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria. Journal of Inherited Metabolic Disease, 34(2), 455-463.
Yi SH, Kable JA, Evatt ML, Singh RH. (2011). A randomized, placebo-controlled, double-blind trial of supplemental docosahexaenoic acid on cognitive processing speed and executive function in females of reproductive age with phenylketonuria: A pilot study. Prostaglandins, Leukotrienes, and Essential Fatty Acids, 85(6), 317-27.
Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelly, RI, Beier, DR. (2011). Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo. PLoS Genetics, doi: 10.1371/journal.pgen.1002224.
DeBarber AE, Sandlers Y, Pappu AS, Merkens LS, Duell PB, Lear SR, Erickson SK, Steiner RD. (2011). Profiling sterols in cerebrotendinous xanthomatosis: Utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. Journal of Chromatography, 879(17-18), 1384-1392.
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. (2011). Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. American Journal of Medical Genetics (Part A), 155A(7), 1597-1604.
Gleason JE, Corrigan DJ, Cox JE, Reddi AR, McGinnis LA, Culotta VC. (2011). Analysis of Hypoxia and Hypoxia-Like States through Metabolite Profiling. PLoS One, doi: 10.1371/journal.pone.0024741.
He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J. (2011). Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. The Journal of Clinical Investigation, 121(3), 976-984.
Kennedy Krieger Institute Genetics Laboratories
707 North Broadway
Baltimore, MD 21205
Kennedy Krieger Institute Genetics Lab Billing Department
Attn: Ann Snitcher
Phone: (443) 923-2788
Fax: (443) 923-2755
Tax ID: 52-1524965
NPI Number: 1649595141
As of May 1, 2017, we will no longer be offering peroxisomal testing in skin fibroblasts. We will continue to offer prenatal testing in cultured cells.
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.