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

Mazer LM, Yi SH, Singh RH. (2010). Docosahexaenoic acid status in females of reproductive age with maple syrup urine diseaseJournal of Inherited Metabolic Disease, 33(2), 121-127.

Glick NR, Fischer MH. (2010). Low DHA and plasmalogens associated with a precise PUFA-rich diet devoid of DHAClinical Biochemistry, 43(16-17), 1305-8.

Watkins PA, Moser AB, Toomer 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 functionsBMC 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 OPA3Development, 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 designMolecular Genetics and Metabolism, 99(4), 333-345.

Paker AM, Sunness JS, Brereton NH, Speedie LJ, Albanna L, Dharmaraj S, Moser ABJones RO, Raymond GV. (2010). Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trialNeurology, 75(9), 826-830.

Niu DM, Chong KW, Hsu JH, Wu TJ, Yu HC, Huang CH, Lo MY, Kwok CF, Kratz LE, Ho LT. (2010). Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and childrenJournal of Inherited Metabolic Disease, 33(4), 437-443.

Ukoli FA, Fowke JH, Akumabor P, Oguike T, Taher KA, Murff HJ, Amaefuna ER, Kittles R, Ahaghotu C, Osime U, Beech DJ. (2010). The association of plasma fatty acids with prostate cancer risk in African Americans and AfricansJournal of Health Care for the Poor and Underserved, 21(1 Suppl), 127-147.

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 syndromeAmerican Journal of Human Genetics, 87(6), 905-914.

Glick NR, Fischer MH. (2008). Essential fatty acid-deprived tube-fed adults synthesize arachidonic and docosahexaenoic acids: a pilot analysis of the fatty acid status of people with profound developmental disabilities. Clinical Biochemistry, 41(12), 1019-21.

Linday LA, Shindledecker RD, Dolitsky JN, Chen TC, Holick MF. (2008). Plasma 25-hydroxyvitamin D levels in young children undergoing placement of tympanostomy tubes. The Annals of Otology, Rhinology and Laryngology, 117(10), 740-744.

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.

Steinberg S, Jones R, Tiffany C, Moser A. (2008). Investigational methods for peroxisomal disorders. Current Protocols in Human Genetics, 17(17.6). doi: 10.1002/0471142905.hg1706s58.

Shackleton CH, Marcos J, Palomaki GE, Craig WY, Kelley RI, Kratz LE, Haddow JE. (2007). Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). American Journal of Medical Genetics. Part A, 143A(18), 2129-2136.

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.

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

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.