Research Publications 2010-present

  1. 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.
  2. Milunsky A.  Amniotic Fluid.  In: Genetic Disorders and the Fetus:  Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010.
  3. 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.
  4. Milunsky A.  Foreword:  Human Chromosome Variation:  Heteromorphism and Polymorphism, (Eds. Wyandt HE and Tonk VS), 2nd Ed. (In Press).
  5. 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.
  6. 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.
  7. Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM. A de novo Balanced Translocation Breakpoint Truncating the Autism Susceptibility Candidate 2 (AUTS2) Gene in a Patient with Autism. AM J MED GENET A 152A (8):2112-4;2010
  8. 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.
  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, 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 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. 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 79(4):363-70;2011.
  14. Dauber A, Hirschhorn J, Picker J, Maher T, Milunsky A.   Delayed Puberty due to a Novel Mutation in CHD7 Causing CHARGE Syndrome.  PEDIATRICS 126(6):1;2011.
  15. 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.  AMER J MED GENET A 155:1987-90;2011.
  16. Milunsky A.  Genes, Genetic Disorders and Neonatal Encephalopathy.  In:  Neonatal Encephalopathy and Cerebral Palsy.  The American College of Obstetricians and Gynecologists and American Academy of Pediatrics.  (In Press)
  17. 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.
  18. 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.
  19. 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.
  20. 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 GENET 1-7, 2011.
  21. 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.
  22. 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.
  23. Flore LA and Milunsky JM. Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability. SEMIN PEDIATR NEUROL 19:173-180;2012.
  24. Montano N, Quadrelli A, Milunsky A, Vaglio A, Quadrelli R.  Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a deceased newborn and identification of a new mutation in exon 29 of the CHD7 gene.  STEM CELL DISCOVERY 2:1;2012
  25. Margolin D, Chan YM, Lim E, Schmahmann J, Hadjivassiliou M, Hall J, Adam I, Dwyer A, Plummer L, Aldrin S, O’Rourke J, Kirby A, Lage K, Milunsky A, Milunsky J,Chan J, Hedley-White T, Daly M, Seminary S.   Ataxia, Dementia,and Hypogonadotropic Hypogonadism due to mutations in RNF216, an E3 Ubiquitin-Protein Ligase linking neurodegenerative and Reproductive Endocrine phenotypes. N ENGL J MED 368:1992-2003;2013.
  26. Steenkamp DW, Milunsky JM, Sternthal E. Preserved Proinsulin Production in Homozygous PTPN 22 C1858T Variant Type 1 Diabetes: A Possible Explanation for Absence of Overt Ketoacidosis Despite Omission of Exogenous Insulin. ENDOCR PRACT 19(3):426-430;2013.
  27. Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O’Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte T, Daly MJ, Katsanis N, Seminara SB. Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination. N ENGL J MED 368 (21);2013.
  28. Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM,Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ, Almureikhi M, Baban A, Barbosa M, Ben-Omran T, Berry K, Bigoni S, Boute O, Brueton L, van der Burgt I, Canham N, Chandler KE, Chrzanowska K, Collins AL, de Toni T, Dean J, den Hollander NS, Flore LA, Fryer A, Gardham A, Graham JM Jr,Harrison V, Horn D, Jongmans MC, Josifova D, Kant SG, Kapoor S, Kingston H, Kini U, Kleefstra T, Krajewska-Walasek M, Kramer N, Maas SM, Maciel P, Mancini GM, Maystadt I, McKee S, Milunsky JM, et al. Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients. HUM MUTAT 34(11): 1519-28;2013.
  29. Upadhyay J, Steenkamp DW, Milunsky JM. The Syndrome of Hypoparathyroidism, Deafness, and Renal Anomalies. ENDOCR PRACT 19(6):1035-42;2013.
  30. Uhlmann WR, Peñaherrera MS, Robinson WP, Milunsky JM, Nicholson JM, Albin RL. Biallelic Mutations in Huntington Disease: A New Case with Just One Affected Parent, Review of the Literature and Terminology. AM J MED GENET A 167A(5):11521160;2015.
  31.  Walters-Sen LC, Windemuth K, Angione K, Nandhlal J, Milunsky JM. Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5). EUR J MED GENET 58(5):305-9;2015.