2008-2012

1. Caronna E, Milunsky JM, Tager-Flusberg H. Autism: Clinical and Research Frontiers. Arch Dis Child. 93:518-523; 2008.

2. 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.

3. 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.

4. Milunsky A, Ito M, Maher T, Flynn M, Milunsky JM. Prenatal molecular diagnosis of Tuberous Sclerosis. Am J Obstet Gynecol 2009:321-324;2009.

5. Zou Y, Huang XL, Ito M, NewtonS, Milunsky JM. Further delineation of the critical region for the 9p-duplication syndrome. Am J Med Genet 149A:272-276;2009.

6. 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.

7. 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. Journal of Neuroscience. 29(35):10843-10854; 2009.

8. Zou Y, NewtonS, Milunsky JM. A complex maternal rearrangement results in a Pure 10.9 Mb Duplication of the 5q13.1-q14.1 Region in an Affected Son. Am J Med Genet A. 152A (2):498-503;2010.

9. Shen Y, Dies KA, Holm IA, Sobeih M, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Bridgemohan C, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Milunsky JM, Rappaport L, Wu BL, Miller DT. Clinical Genetic Testing for Patients with Autism Spectrum Disorders. Pediatrics. 125(4):e727-35; 2010.

10. Jamal SM, Basran RK, NewtonS, Wang Z, Milunsky JM. Novel de novo PCDH19 Mutations in Three Unrelated Females with Epilepsy Female Restricted Mental Retardation Syndrome. Am J Med Genet A. 152A(10):2475-81;2010.

11. Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gemmill G, Drabkin H, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Non-Disjunction: The t(8;22)(q24.13;q11.21). Am J Human Genet. 87:1-10;2010.

12. Leon E, Zou Y, Milunsky JM. Mosaic Down Syndrome In A Patient With Low-Level Mosaicism Detected by Microarray. Am J Med Genet A. 152A(12):3154-6;2010.

13. Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Ch_enier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, ReardonW, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. 2011.Genotype–phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A. 155A(1):22-32;2011.

14. Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL. De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism. Biol Psychiatry. 1;69(9):898-901; 2011.

15. Leon E, Jamal SM, Zou YS, Milunsky JM. Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8. Am J Med Genet A;155(7):1740-4. 2011.

16. Dumitrescu AV, Milunsky JM, Longmuir SQ, Drack AV. Case Report: A Family with Branchio-oculo-facial Syndrome with Primary Ocular Involvement Associated with Mutation of the TFAP2A Gene. Ophthalmic Genetics, 1-7, 2011.

17. Flore LA, Leon E, Maher TA, Milunsky JM. RASA1 analysis guides management in a family with capillary malformation- arteriovenous malformation. J. Ped Genet. (2) 125-129, 2012.

18. Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky JM, Chitayat D. Middle and inner ear malformations in mutation- proven Branchio-Oculo-Facial (BOF) syndrome: case series and review of the literature. Am J Med Genet A. 158(8):1977-81, 2012.

19. Flore LA and Milunsky JM. Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability. Semin Pediatr Neurol (Submitted).

20. Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal molecular diagnosis of Tuberous sclerosis complex. AM J OBSTET GYNECOL. 2009 Mar;200(3):321.

21. 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. 2009 Jun;13(3):387-393.

22. Milunsky A. Epidemiology and Prevention of Neural Tube Defects. In: Chervenak F. (Ed.) Fetal and Neonatal Neurology and Neurosurgery, 4th Ed., Churchill Livingstone 2009.

23. Milunsky A, J. Milunsky. Preconception, Prenatal and Perinatal. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010.

24. Milunsky A. Amniotic Fluid. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010.

25. Milunsky A, Canick J. Maternal Serum Screening for Neural Tube and Other Defects. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010.

26. Vaglio A, Milunsky A, Huang X-L, Mechoso B, Quadrelli A, Pagano S, Bellini S, Costabel M, Quadrelli R. Clinical, cytogenetic and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. GENET TEST MOL BIOMARKERS. 2010 Feb;14(1):57-65.

27. Flynn M, Zou Y, Milunsky A. Whole Gene Duplication of the PQBP1 Gene in Syndrome Resembling Renpenning. AM J MED GENET Part A 2010;155:142.

28. Al-Owain M, Kaya N, Al-Zaiden H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran R, Milunsky A. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. CLIN GENET. 2010;May 7, 1-8.

29. Dauber A, Hirschhorn J, Picker J, Maher T, Milunsky A. Delayed Puberty due to a Novel Mutation in CHD7 Causing CHARGE Syndrome. PEDIATRICS 2010;126(6):1.

30. Skagen PS, Horn T, Milunsky A, Kruse, HA, Staergaard B, Nicolaisen T. Patella alta is associated with abnormal type II collagen hetero-fibrils and matrix accumulation in rough Endoplasmic Reticulum Scandinavian Journal of Medicine & Science in Sports (In Press)

31. Pilozzi-Edmonds L, Maher TA, Milunsky A, Al-Thihli K, Braverman N, Alfares A. Fraternal twins with Aarskog-Scott Syndrome, a Case with Germline Mosaicism. Am J Med Genet A. 2011 Aug;155A(8):1987-90.

32. Milunsky A, Ito M, Maher T, Flynn M, Milunsky JM. Prenatal molecular diagnosis of Tuberous Sclerosis. Am J Obstet Gynecol 2009:321-324;2009.

33. 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.

34. 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

35. 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. Journal of Neuroscience. 29(35):10843-10854; 2009.

36. Zou Y, Newton S, Milunsky JM. A complex maternal rearrangement results in a Pure 10.9 Mb Duplication of the 5q13.1-q14.1 Region in an Affected Son. Am J Med Genet A. 152A (2):498-503. 2010

37. Shen Y, Dies KA, Holm IA, Sobeih M, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Bridgemohan C, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Milunsky JM, Rappaport L, Wu BL, Miller DT. Clinical Genetic Testing for Patients with Autism Spectrum Disorders. Pediatrics published online March 15, 2010. DOI: 10.1542/peds.2009-1684

38. Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM. Novel de novo PCDH19 Mutations in Three Unrelated Females with Epilepsy Female Restricted Mental Retardation Syndrome. Am J Med Genet published Sept. 9, 2010.

39. Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gemmill G, Drabkin H, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Non-Disjunction: The t (8;22)(q24.13;q11.21). Am J Human Genet. 87:1-10. 2010

40. Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka J, Krebs M-O, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, and Michaud JL. De novo SYNGAP1 mutations in non-syndromic intellectual disability and autism. Biology Psychiatry 2010.

41. Leon E, Zou Y, Milunsky JM. Mosaic Down Syndrome In A Patient With Low-Level Mosaicism Detected By Microarray. Am J Med Genet A. 2010 Dec;152A(12):3154-6.

42. Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chenier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, ReardonW, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. 2011.Genotype–phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet Part A 155:22–32.

43. Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL. De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism. Biol Psychiatry. 2011 Jan 14.

44. Leon E, Jamal SM, Zou Y, Milunsky JM. Partial Trisomy 8 Mosaicism Due To A Pseudoisodicentric Chromosome 8. Am J Med Genet A. 2011 Jul;155A(7):1740-4.

45. Milunsky A. Epidemiology and Prevention of Neural Tube Defects. In: Chervenak F. (Ed.) Fetal and Neonatal Neurology and Neurosurgery, 4th Ed., 2009.