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

2016 - 2017 | 2014-2015 | 2011-2013 | 2006-2010 | 2001-2005

Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi AAntioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy. JAMA Neurol. 2017 Mar 13. doi: 10.1001/jamaneurol.2016.5715. [Epub ahead of print] PubMed PMID: 28288261.

Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11. PubMed PMID: 27513191; PubMed Central PMCID: PMC5303568.

Law KB, Bronte-Tinkew D, Di Pietro E, Snowden A, Jones RO, Moser A, Brumell JH, Braverman N, Kim PK. The Peroxisomal AAA ATPase Complex Prevents Pexophagy and Development of Peroxisome Biogenesis Disorders. Autophagy, 2017.

Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF. Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. Mol Genet Metab Rep. 2016 Nov 11;9:75-78. eCollection 2016 Dec. PubMed PMID: 27872819; PubMed Central PMCID: PMC5109284.

McNamara RK, Moser AB, Jones RI, Jandacek R, Patino LR, Strawn JR, Strakowski SM, DelBello MP. Familial risk for bipolar disorder is not associated with impaired peroxisomal function: Dissociation from docosahexaenoic acid deficits. Psychiatry Res. 2016 Dec 30;246:803-807. doi: 10.1016/j.psychres.2016.10.042. Epub 2016 Oct 25. PubMed PMID: 27825781; PubMed Central PMCID: PMC5161539.

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CW, Pizzino A, Schrader M, Wanders RJ, Vanderver A, Waterham HR. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. J Med Genet. 2016 Oct 31. pii: jmedgenet-2016-104132. doi:10.1136/jmedgenet-2016-104132. [Epub ahead of print] PubMed PMID: 27799409.

Kratz LE, Albert JS. 2-Ethylhexanoic acid, found in common plasticizers, leads to an artificial increase in C8 acylcarnitine levels in two neonates treated with extracorporeal membrane oxygenation (ECMO). Clin Chim Acta. 2016 Oct 1;461:59-60. doi: 10.1016/j.cca.2016.07.023. Epub 2016 Jul 27. PubMed PMID: 27475980.

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-/- hepatocytesOncotarget. 2016 Apr 20. doi: 10.18632/oncotarget.8856. [Epub ahead of print] PubMed PMID: 27105497.

Ahmed MA, Kartha RV, Brundage R, 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.

Driver AM, Kratz LE, Kelley RI, Stottmann RW. Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrainNeurobiol 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.

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.