PUBLICATIONS

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  1. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. . 2011 Dec; 155A(12):2956-63. View abstract
  2. Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. . 2011 Sep; 155A(9):2105-11. View abstract
  3. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View abstract
  4. Angelman syndrome: Mutations influence features in early childhood. . 2011 Jan; 155A(1):81-90. View abstract
  5. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601. View abstract
  6. Psychosocial aspects of PKU: hidden disabilities--a review. Mol Genet Metab. 2010; 99 Suppl 1:S64-7. View abstract
  7. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract