2004-2005

1. Ikeda Y, Dalton J, Moseley M, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LPW. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 ataxia families. Am J Hum Genet 75:3;2004.

2. Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brumond MR, Milunsky JM. Precise Prenatal Diagnosis of Tuberous Sclerosis by Sequencing the TSC2 Gene. Prenatal Diagnosis 25(7):582-585;2005.

3. Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, Pangalos C. The Prenatal Diagnosis of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Prenatal Diagnosis 2005;25(11):1057-1058.

4. Shim SH, Ito M, Maher T, Milunsky, A. Gene Sequencing in Neonates and Infants with the Long QT Syndrome (LQTS). Genetic Testing 2005;9(4):281-284.

5. Huang X-L, deMichelena MA, Mark HFL, Harston R, Benke PJ, Price SJ, Milunsky A. Characterization of an Analphoid Supernumerary marker Chromosome with a Neocentromere Derived from 15q25?qter Using High Resolution CGH and Multiplex FISH Analyses. Clin Genet 2005;68(6):513-9.

6. Shim SH, Wyandt HE, McDonald-McGinn DM, Zackai EZ, Milunsky A. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg’s syndrome and other congenital defects. Clin Genet 2004:66:46-52.

7. Milunsky JM, Maher TA. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet 125A:320; 2004.

8. Siegel B, Milunsky JM. When should the possibility of a genetic disorder cross your radar screen? Contemp Pediatr 21(5):30-45;2004.

9. Ivan CS, Saint-Hilaire MH, Christensen TG, Milunsky JM. Adult-Onset Neuronal Ceroid Lipofuscinosis Type B in an African American. Movement Disorders Feb, 2005.

10. Mark HFL, Wyandt H, Huang XL, Milunsky JM. Delineation of a Supernumerary Marker Chromosome Utilizing a Multimodal Approach of G-Banding, FISH, Confirmatory PAC-FISH and High Resolution CGH. Clin Genet 68:146-151, 2005.

11. Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brummund MR, Milunsky JM. Precise Prenatal Diagnosis of Tuberous Sclerosis by Sequencing the TSC2 Gene. Prenatal Diag 25(7):582-585, 2005.

12. Mark HFL, Wyandt H, Pan A, Milunsky JM. Constitutional Partial 1Q Trisomy Mosaicism and Wilms Tumor. Cancer Genet Cytogenet. Cancer Genetics and Cytogenetics 162 (2005) 166-171, 2005.

13. Margolin DH, Adam I, Sims KS, Milunsky JM, Milunsky A, Seminara SB, Chan J, Hedley-Whyte ET. Hypogonadism-ataxia-dementia syndrome with neuronal intranuclear inclusions. (Submitted).