Research Publications 2002-2005

  1. Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A.  Analysis by Mass Spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.  HUMAN REPROD 17:2066-2072;2002.
  2. Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM.  Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin. AM J HUM GENET 71:618-624;2002.
  3. Kirsch S, Weiss B, Kleiman S, Roberts K, Pryor J, Milunsky A, Ferlin A, Foresta C, Matthijs G, Simoni M, Rappold GA.  Localization of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere.  J MED GENET 39(7):507-513;2002.
  4. Moore LL, Singer, M., Rothman K, Milunsky A. Chromosomal Anomalies Among the Offspring of Women with Gestational Diabetes.  AM J EPIDEMIOL 155(8):719-724;2002.
  5. Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A.  Mutation analysis of Rett syndrome patients.  GENET TEST 5(4):321-5;2001.
  6. Lebo RV, Wyandt HE, Warburton PE, Li S, Milunsky JM.  An unstable dicentric Robertsonian translocation in a markedly discordant twin.  CLIN GENET 62(5):383-389;2002.
  7. Ma, Y, Zhang S, Xia Q, Zhang GE, Huang X-L, Huang M, Xiao C, Pan A, Sun Y, Lebo R Milunsky, A.  Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide.  MOL HUMAN REPROD 8(1):24-31;2002.
  8. Moore LL, Bradlee ML, Singer MR, Rothman KJ, Milunsky A.  Folate Intake and the Risk of Neural Tube Defects:  An Estimation of Dose-Response.  EPIDEMIOL 14:200-205;2003.
  9. Milunsky JM, Maher TA, Metzenberg AB.  Molecular, Biochemical, and Phenotypic Analysis of a Hemizygous Male With a Severe Atypical Phenotype for X-Linked Dominant Conradi-Hunermann-Happle Syndrome and a Mutation in EBP.  AM J MED GENET 116(3):249-54;2003.
  10. Milunsky JM, Capin DM.  Cerebro-Oculo-Facial-Lymphatic Syndrome (COFL).  CLIN GENET 63:291-296;2003.
  11. Stevenson VA, Ito M, Milunsky JM.  Connexin-30 Deletion Analysis in Connexin-26 Heterozygotes. GENET TEST 7:151-154; 2003.
  12. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M.  XL PCR for the Detection of Large Trinucleotide Expansions in juvenile Huntington’s disease.  CLIN GENET 64:70-73;2003.
  13. Milunsky JM, Huang XL.  Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.  CLIN GENET 64: 509-516;2003.
  14. Shim SH, Pan A, Huang XL, Tonk VS, Varma SK, Milunsky JM, Wyandt HE.  FISH Variants With D15Z1.  J ASSOC GENET TECH 29(4):147-151;2003.
  15. Milunsky A.  Lies, Damned Lies, and Medical Experts:  The Abrogation of Responsibility by Specialty Organizations and a Call for Action.  J CHILD NEUROL 18:413-419:2003.
  16.  Milunsky A.  Genetic Counseling:  Preconception, Prenatal, and Perinatal.  In:  Genetic Disorders and the FetusDiagnosis, Prevention and Treatment, 5th Edition, (A. Milunsky, Editor).  Johns Hopkins University Press, Baltimore, 2004.
  17. Milunsky A and Dallaire L.  Amniotic Fluid.  In Genetic Disorders and the FetusDiagnosis, Prevention and Treatment, 5th Edition, (A. Milunsky, Editor).  Johns Hopkins University Press, Baltimore, 2004.
  18. Prior TW, Milunsky A, Vnencak-Jones CL, Phillips JA, III.  Molecular Genetics and Prenatal Diagnosis.  In Genetic Disorders and the FetusDiagnosis, Prevention and Treatment, 5th Edition, (A. Milunsky, Editor).  Johns Hopkins University Press, Baltimore, 2004.
  19. Milunsky A.  Genetic Disorders and the Fetus:  Universal Lessons from Claims of Medical Negligence.  FETAL DIAG THER 19(S1):47;2004.
  20. Milunsky A. Foreword In:  Atlas of Human Chromosome Heteromorphism.  (Eds. Wyandt HE and Tonk VS)(1st Ed.) Kluwer Academic Publishers, 2004.
  21. Milunsky A, Canick JA.  Maternal Serum Screening for Neural Tube and Other Defects.  In Genetic Disorders and the FetusDiagnosis, Prevention and Treatment, 5th Edition, (A. Milunsky, Editor).  Johns Hopkins University Press, Baltimore, 2004.
  22. Milunsky JM, Maher TA.  Fragile X carrier screening and spinocerebellar ataxia in older males. AM J MED GENET 125A:320;2004.
  23. Siegel B, Milunsky JM.  When should the possibility of a genetic disorder cross your radar screen?  CONTEMP PEDIATR 21(5):30-45;2004.
  24. 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 75:3-16;2004.
  25. 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 66:46-52;2004.
  26. Ivan CS, Saint-Hilaire MH, Christensen TG, Milunsky JM. Adult-Onset Neuronal Ceroid Lipofuscinosis Type B in an African American. MOV DISORD 20(6):  752-754;2005.
  27. 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.
  28. Milunsky J and Milunsky A.  Genetic Counseling in Prenatal and Perinatal Medicine.  In Clinical Obstetrics.  E.A. Reece and J.C. Hobbins (Editors), 2nd Ed. Lippincott-Raven, Philadelphia.
  29. Mark HFL, Wyandt H, Pan A, Milunsky JM.  Constitutional Partial 1Q Trisomy Mosaicism and Wilms Tumor. Cancer Genet Cytogenet.  CANCER GENET CYTOGENET 162 (2005) 166-171;2005.
  30. 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.  PREN DIAGN 25(7):582-585;2005.
  31. 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) by Mutation Analysis.  PREN DIAGN 25(11):1057-1058;2005.
  32. Shim SH, Ito M, Maher T, Milunsky, A.  Gene Sequencing in Neonates and Infants with the Long QT Syndrome (LQTS).  GENETIC TESTING 9(4):281-284;2005.
  33.  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 68(6):513-519;2005.