Recent Publications

Baker MW, Laessig RH, Katcher ML, Routes JM, Grossman WJ, Verbsky J, Kurtycz DF, Brokopp CD. Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program. Public Health Rep. 2010 May-Jun;125 Suppl 2:88-95.

Chen X, Raca G, Laffin J, Babaian KN, Williams DH. Chromosomal abnormalities in two cases of testicular failure. J Androl. 2010 Oct 21.

Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G. Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. Am J Med Genet A. 2010 Apr;152A(4):904-15.

Xu X, Chen X, Rauch EA, Johnson EB, Thompson KJ, Laffin JJS, Raca G, Kurtycz DF. Unbalanced rearrangement der(9;18)(p10;q10) in a patient with polycythemia vera. Atlas Genet Cytogenet Oncol Haematol. April 2010.

Dwyer E, Hyland J, Modaff P, Pauli RM. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 2010 Dec;152A(12):3043-50.

Kang L, Marty D, Pauli RM, Mendelsohn NJ, Prachand V, Waggoner D. Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis. 2010 Jan-Feb;6(1):99-101.

Pauli RM: Achondroplasia. In: Cassidy SB, Allanson JE eds. Management of Genetic Syndromes. 3rd edition. Hoboken, NJ: Wiley-Blackwell; 2010, 17-38.

Pauli RM. Stillbirth: fetal disorders. Clin Obstet Gynecol. 2010 Sep;53(3):646-55.

MacLeod EL, Clayton MK, van Calcar SC, Ney DM. Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria. Mol Genet Metab. 2010 Aug;100(4):303-8.

Reineking B, van Calcar S. Inborn Errors of Metabolism, In: Corkins MR, ed. A.S.P.E.N. Pediatric Nutrition Support Core Curriculum. Silver Spring, MD: American Society of Parenteral and Enteral Nutrition. 2010; 232-246.

Hegge JO, Wooddell CI, Zhang G, Hagstrom JE, Braun S, Huss T, Sebestyén MG, Emborg ME, Wolff JA. Evaluation of hydrodynamic limb vein injections in nonhuman primates. Hum Gene Ther. 2010 Jul;21(7):829-42.

Mudd SR, Trubetskoy VS, Blokhin AV, Weichert JP, Wolff JA. Hybrid PET/CT for noninvasive pharmacokinetic evaluation of dynamic PolyConjugates, a synthetic siRNA delivery system. Bioconjug Chem. 2010 Jul 21;21(7):1183-9.

Wooddell CI, Subbotin VM, Sebesty X00e9 N MG, Griffin JB, Zhang G, Schleef M, Braun S, Huss T, Wolff JA. Muscle damage following delivery of naked plasmid DNA into skeletal muscles is batch-dependent. Hum Gene Ther. 2010 Oct 13.