Genetics Laboratories Publications

Below is a list of publications to which work performed at the Genetics Laboratories at Kennedy Krieger Institute has contributed.

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 YMoser AB, Hubbard WC, Kratz LEJones RORaymond GV. (2012). Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophyMolecular Genetics and Metabolism, 105(3), 416-420.

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.

Watkins PA, Moser AB, Tooner CB, Steinberg SJ, Moser HW, Karaman MW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JC. (2010). Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions. BMC Physiology, doi: 10.1186/1472-6793-10-19.

Pei W, Kratz LE, Bernardini I, Sood R, Yokogawa T, Dorward H, Ciccone C, Kelley RI, Anikster Y, Burgess HA, Huizing M, Feldman B. (2010). A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development, 137(15), 2587-96.

Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shelmer D, Moser AB, Morton DH. (2010). Classical maple syrup urine disease and brain development: Principles of management and formula design. Molecular Genetics and Metabolism, 99(4), 333-345.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics, 87(6), 905-914.

Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, Mitchell RL, Kern RL, Natowicz MR. (2008). Mitochondrial disease in autism spectrum disorder patients: A cohort analysis. PLoS ONE, doi: 10.1371/journal.pone.0003815.

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. (2008). Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations. Journal of Medical Genetics, 45(4), 200-209.

Savransky V, Jun J, Li J, Nanayakkara A, Fonti S, Moser A, Steele K, Schweitzer M, Patil S, Bhanot S, Schwartz A, Polotsky V. (2008). Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase. Circulation Research, 103(10), 1173-1180.

Alexander JW, Goodman HR, Sucoop P, Light JA, Kuo PC, Moser AB, James JH, Woodle ES. (2008). Influence of long chain polyunsaturated fatty acids and ornitine concentrations on complications after renal transplant. Experimental and Clinical Transplantation, 6(2), 118-126.

Williams JA, Barreiro CJ, Nwakanma LU, Lange MS, Kratz LE, Blue ME, Berrong J, Patel ND, Gott VL, Troncoso JC, Johnston MV, Baumgartner WA. (2006). Valproic acid prevents brain injury in a canine model of hypothermic circulatory arrest: A promising new approach to neuroprotection during cardiac surgery. The Annals of Thoracic Surgery, 81(6), 2235-2241.

Barreiro CJ, Williams JA, Fitton TP, Lange MS, Blue ME, Kratz L, Barker PB, Degaonkar M, Gott VL, Troncoso JC, Johnston MV, Baumgartner WA. (2006). Noninvasive assessment of brain injury in a canine model of hypothermic circulatory arrest using magnetic resonance spectroscopy. The Annals of Thoracic Surgery, 81(5), 1593-1598.

Berson EJ, Rosner B, Sandberg MA, Weigel-DiFranco C, Moser A, Brockhurst RJ, Hayes KC, Johnson CA, Anderson EJ, Gaudio AR, Willet WC, Schaefer EJ. (2004). Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: Subgroup analyses. Archives of Ophthalmology, 122(9), 1306-1314.

Berson EJ, Rosner B, Sandberg MA, Weigel-DiFranco C, Moser A, Brockhurst RJ, Hayes KC, Johnson CA, Anderson EJ, Gaudio AR, Willet WC, Schaefer EJ. (2004). Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Archives of Ophthalmology, 122(9), 1297-1305.

Linday LA, Shindledecker RD, Tapia-Mendoza J, Dolitsky RD. (2004). Effect of daily cod liver oil and a multivitamin-mineral supplement with selenium on upper respiratory tract pediatric visits by young, inner-city, Latino children: Randomized pediatric sites. The Annals of Otology, Rhinology, and Laryngology, 113(11), 891-901.

Linday LA, Dolitsky JN, Shindledecker RD. (2004). Nutritional supplements as adjunctive therapy for children with chronic/recurrent sinusitis: Pilot research. International Journal of Pediatric Otorhinolaryngology, 68(6), 785-793.

Hoover-Fong J, Moser A, Moser H, Diener-West M, O’Brien K, Hamosh A, Rosenstein B, Boyle M, Cutting G. (2003). Fatty acid imbalance in cystic fibrosis associated with pulmonary disease severityAmerican Journal of Human Genetics, 73(Supplement), 465a.

Kwiterovich PO Jr, Chen SC, Virgil DG, Schweitzer A, Arnold DR, Kratz LE. (2003). Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge. Journal of Lipid Resesearch, 44(6), 1143-1155.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD. (2003). Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Human Molecular Genetics, 12(13), 1631-1641.

Linday LA, Dolitsky JN, Shindledecker RD, Pippenger CE. (2002). Lemon-flavored cod liver oil and a multivitamin-mineral supplement for the secondary prevention of otitis media in young children: pilot research. The Annals of Otology, Rhinology, and Laryngology, 111(7 Part 1), 642-652.

Moseley K, Koch R, Moser AB. (2002). Lipid status of long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet. Journal of Inherited Metabolic Disease, 25(1), 56-64.

Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD. (2001). Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Human Molecular Genetics, 10(6), 555-564.