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John Pappas

Clinical Instructor of Psychiatry and the Behavioral Sciences (Practitioner)

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Phone +1 323 442 9626
Email [email protected]
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Publications

  • De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. Genet Med. 2022 09; 24(9):1952-1966.. View in PubMed
  • Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. Genet Med. 2022 07; 24(7):1583-1591.. View in PubMed
  • Severe Acute Systemic Reaction After the First Injections of Ixekizumab. Cutis. 2022 Jan; 109(1):E33-E35.. View in PubMed
  • Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021 11; 185(11):3446-3458.. View in PubMed
  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63.. View in PubMed
  • EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet J Rare Dis. 2021 03 18; 16(1):136.. View in PubMed
  • Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. Am J Med Genet A. 2021 05; 185(5):1589-1597.. View in PubMed
  • CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants. Genet Med. 2021 06; 23(6):1050-1057.. View in PubMed
  • A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. Eur J Hum Genet. 2021 06; 29(6):988-997.. View in PubMed
  • Germline AGO2 mutations impair RNA interference and human neurological development. Nat Commun. 2020 11 16; 11(1):5797.. View in PubMed

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