Research Publications 2006-2009

  1. Wyandt, H, Tonk VJ, Huang X-L, Evans AT, Milunsky JMMilunsky A.  Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis.  FETAL DIAG THER 21(2):235-240;2006.
  2. Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM.  A Large Deletion in the CFTR Gene in a CBAVD patient. GENET MED 8(2):93-95;2006.
  3. Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss M, Quan F, Anguiano A, Huang S, Hantash F, Strom S.  The CFTR 5T Variant has a Low Penetrance in Females that is Partially Attributable to its Haplotype. GENET MED 8(6):339-345;2006.
  4. Wyandt HE, Shim SH, Huang XL, Mark HFL, Milunsky JM. Duplication of 11p14.3-p15.1 in a Mentally Retarded Proband and his mother detected by G-Banding and Confirmed by High-Resolution CGH and BAC FISH. EXP MOL PATHOL 80: 262-266;2006.
  5.  Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB.  LADD syndrome is caused by FGF10 mutations.  CLIN GENET 69: 349-354;2006.
  6. Flynn M, Milunsky JM.  Autosomal Dominant Syndrome Resembling Coffin-Siris Syndrome.  AM J MED GENET 140A:  1326-1330;2006.
  7. Vaglio A, Gonzalo G, Bernal M, Sanguinetti C, Mechoso B, Quadrelli A, Tucci P, Milunsky JM, Huang XL, Pagano S, Quadrelli R.  Prenatal and Postnatal characterization of a de novo Xq22.1 terminal deletion.  GENET TEST 10: 272-276;2006.
  8. Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Sadaf Farooqi I, Rand CM, Weese-Mayer DE.  Rapid Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation Presenting in Childhood.  PEDIATRICS 120: e179-e188;2007.
  9. Mechoso B, Vaglio A, Quadrelli A, Mark HFL, Huang X-L, Milunsky A, Quadrelli R.  A De Novo Complex  Chromosome Rearrangement Involving Chromosomes 2,3,5,9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular Analyses.  FETAL DIAGN THER 22(4):249-253;2007.
  10. Milunsky JM and Milunsky A.  Genetic Counseling in Prenatal and Perinatal Medicine. In:  Reece EA, Hobbins JC (Eds.)  Clinical Obstetrics:  The Fetus and Mother, 3rd Edition, Wiley-Blackwell, U.K. March 2007.
  11. Conway R, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara P, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil D, Harding B, Graham JM. Neuroimaging Findings in Macrocephaly-Capillary Malformation: A Longitudinal Study of 17 Patients. AM J MED GENET A 143(24):2981-3008;2007.
  12. Milunsky JM, Maher TA, Ito M, Milunsky A.  The value of MLPA in Waardenburg syndrome.  GENET TEST 11(2):179-82;2007.
  13. Vaglio A, Milunsky A, Huang, X-L, Quardrelli A, Mechoso B, Quadrelli R.  A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12:  clinical, cytogenetic and molecular observations.  EUR J MED GENET 50(3):224.232;2007.
  14. Huang XL, Isabel de Michelene M, Leon E, Maher TA, McClure R, Milunsky A.  Pallister-Killian syndrome:  tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.  CLIN GENET 72(5):434-40;2007.
  15. Milunsky A.  Hypoxic spinal cord injury and/or abnormality in utero.  PEDIATR NEUROL 37(1):76;2007.
  16. Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Maher TA, Quadrelli R.  A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pterà22q12.1:  clinical, cytogenetic and molecular observations.  EUR J MED GENET 51(4);332-342;2008.
  17. Caronna E, Milunsky JM, Tager-Flusberg H. Autism: Clinical and Research Frontiers. ARCH DIS CHILD 93:518-523;2008.
  18. Weiss L, Shen Y, Korn J, Arking D, Miller D, Fossdal R, Saemundsen E, Stefansson H, Ferreira M, Green T, Platt O, Ruderfer D, Walsh C, Investigators of the Autism Consortium (including Milunsky JM), Chakravarti A, Tanzi R, Stefansson K, Santangelo S, Gusella J, Sklar P, Wu B, Daly M. A recurrent genetic cause of autism: microdeletion at 16p11.2. N ENGL J MED. 358(7):667-75;2008.
  19. Milunsky JM, Maher T, Zhao G, Roberts A, Stalker H, Zori, R, Burch, M, Clemens M, Mulliken J, Smith R, Lin A. TFAP2A mutations result in Branchio-Oculo-Facial syndrome. AM J HUMAN GENET 82(5):1171-1177;2008.
  20. Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y. A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. CLIN GENET 73(5):502-3;2008.
  21. Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM.  Prenatal molecular diagnosis of tuberous sclerosis complex.  AM J OBSTET GYNECOL 200(3):321;2009.
  22. Quadrelli R, Quadrelli A, Milunsky A, Zou YS, Huang X-L, Viera E, Mechoso , Bellini S, Costabel M, Vaglio A.  A fourteen year follow-up of a case detected prenatally of partial trisomy 13q21.21-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18.  GENET TEST MOL BIOMARKERS 13(3):387-393;2009.
  23. Milunsky A.  Epidemiology and Prevention of Neural Tube Defects.  In:  Chervenak F. (Ed.) Fetal and Neonatal Neurology and Neurosurgery, 4th Ed., Churchill Livingstone 2009.
  24. Zou Y, Huang XL, Ito M, Newton S, Milunsky JM. Further delineation of the critical region for the 9p-duplication syndrome. AM J MED GENET 149A:272-276;2009.
  25. Zou Y, Milunsky JM. Developmental Disability and Hypomelanosis of Ito in a Female with 7.3 Mb de Novo Duplication of Xp11.3-p11.4 and Random X Inactivation. AM J MED GENET A 149A (11):2573-7;2009.
  26. Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher T, Tager-Flusberg H, Bolliinger M, Carter A, Boucard A, Powell C, Sudhof T. A Neuroligin-4 Missense Mutation Associated With Autism Impairs Neuroligin-4 Folding and ER Export. J NEUROSCI 29(35):10843-10854;2009.