Melanie Manning

Publications

• Approaching the prevalence of the full spectrum of fetal alcohol spectrum disorders in a South african population-based study. May PA, Blankenship J, Marais AS, Gossage JP, Kalberg WO, Barnard R, De Vries M, Robinson LK, Adnams CM, Buckley D, Manning M, Jones KL, Parry C, Hoyme HE, Seedat S. Alcohol Clin Exp Res. 2013; 37 (5): 818-30
• Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues. Reinstein E, Okenfuss EB, Wadhawan I, Wilnai Y, Manning M, Rimoin DL, Lachman RS. J Appl Genet. 2013; 54 (2): 231-4
• Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. Kwan A, Manning MA, Zollars LK, Hoyme HE. Am J Med Genet A. 2012; 158A (11): 2911-6
• Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome? Niemi AK, Kwan A, Hudgins L, Cherry AM, Manning MA. Am J Med Genet A. 2012; 158A (9): 2328-35
• Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V. Am J Med Genet A. 2011; 155A (9): 2186-95
• Ectopia lentis as the presenting and primary feature in Marfan syndrome. Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Am J Med Genet A. 2011; 155A (11): 2661-8
• Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome. May PA, Tabachnick BG, Gossage JP, Kalberg WO, Marais AS, Robinson LK, Manning M, Buckley D, Hoyme HE. Drug Alcohol Depend. 2011; 119 (1-2): 18-27
• Prevalence of children with severe fetal alcohol spectrum disorders in communities near Rome, Italy: new estimated rates are higher than previous estimates. May PA, Fiorentino D, Coriale G, Kalberg WO, Hoyme HE, Aragón AS, Buckley D, Stellavato C, Gossage JP, Robinson LK, Jones KL, Manning M, Ceccanti M. Int J Environ Res Public Health. 2011; 8 (6): 2331-51
• Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, Hudgins L. Genet Med. 2010; 12 (11): 742-5
• Fetal alcohol spectrum disorders: Extending the range of structural defects. Jones KL, Hoyme HE, Robinson LK, Del Campo M, Manning MA, Prewitt LM, Chambers CD. Am J Med Genet A. 2010; 152A (11): 2731-5
• Population differences in dysmorphic features among children with fetal alcohol spectrum disorders. May PA, Gossage JP, Smith M, Tabachnick BG, Robinson LK, Manning M, Cecanti M, Jones KL, Khaole N, Buckley D, Kalberg WO, Trujillo PM, Hoyme HE. J Dev Behav Pediatr. 2010; 31 (4): 304-16
• Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome. Jones KL, Hoyme HE, Robinson LK, del Campo M, Manning MA, Bakhireva LN, Prewitt LM, Chambers CD. Birth Defects Res A Clin Mol Teratol. 2009; 85 (8): 695-9
• Prevalence and epidemiologic characteristics of FASD from various research methods with an emphasis on recent in-school studies. May PA, Gossage JP, Kalberg WO, Robinson LK, Buckley D, Manning M, Hoyme HE. Dev Disabil Res Rev. 2009; 15 (3): 176-92
• Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. J Med Genet. 2008; 45 (11): 710-20
• Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Am J Med Genet A. 2008; 146 (7): 904-9
• 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Cusmano-Ozog K, Manning MA, Hoyme HE. Am J Med Genet C Semin Med Genet. 2007; 145C (4): 393-8
• Fetal alcohol spectrum disorders: a practical clinical approach to diagnosis. Manning MA, Eugene Hoyme H. Neurosci Biobehav Rev. 2007; 31 (2): 230-8
• Use of array-based technology in the practice of medical genetics. Manning M, Hudgins L. Genet Med. 2007; 9 (9): 650-3
• Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Aradhya S, Manning MA, Splendore A, Cherry AM. Am J Med Genet A. 2007; 143A (13): 1431-41
• Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. Am J Med Genet A. 2006; 140 (12): 1267-73
• A report of three patients with an interstitial deletion of chromosome 15q24. Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, Anderson CE, Punnett HH, Thurston VC, Sweeney D, Vance GH. Am J Med Genet A. 2005; 137 (1): 65-71
• Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. Enns GM, Barkovich AJ, van Kuilenburg AB, Manning M, Sanger T, Witt DR, van Gennip AH. J Inherit Metab Dis. 2004; 27 (4): 513-22
• Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE. Am J Med Genet A. 2004; 125A (3): 240-9
• Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE. Pediatrics. 2004; 114 (2): 451-7
• Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion. Adam MP, Manning MA, Beck AE, Kwan A, Enns GM, Clericuzio C, Hoyme HE. Am J Med Genet A. 2003; 123A (1): 72-8
• Diagnosis and management of the adolescent boy with Klinefelter syndrome. Manning MA, Hoyme HE. Adolesc Med. 2002; 13 (2): 367-74, viii
• Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M. Pediatrics. 2002; 109 (1): E12