John Pappas

Clinical Instructor of Psychiatry and the Behavioral Sciences (Practitioner)

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Publications

Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology. CPT Pharmacometrics Syst Pharmacol. 2018 07; 7(7):442-452.. View in PubMed
Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers. Mov Disord Clin Pract. 2018 Jan-Feb; 5(1):92-95.. View in PubMed
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor. Case Rep Endocrinol. 2017; 2017:3905905.. View in PubMed
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.. View in PubMed
Potocki-Lupski syndrome in conjunction with bilateral clubfoot. J Pediatr Orthop B. 2015 Jul; 24(4):373-6.. View in PubMed
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. J Med Genet. 2015 Aug; 52(8):541-7.. View in PubMed
The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome. Curr Probl Pediatr Adolesc Health Care. 2015 Apr; 45(4):112-7.. View in PubMed
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 01; 23(11):2888-900.. View in PubMed
Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. J Clin Endocrinol Metab. 2009 Dec; 94(12):5028-33.. View in PubMed
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb; 44(2):89-98.. View in PubMed

John Pappas

Publications

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