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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

  • Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders. Genet Med. 2025 05; 27(5):101326.. View in PubMed
  • ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. Am J Med Genet A. 2025 03; 197(3):e63919.. View in PubMed
  • The University of Southern California psychosocial checklist: A novel tool to remotely screen transplant candidates with alcohol-associated liver disease prior to hospital transfer. Liver Transpl. 2025 Feb 01; 31(2):250-253.. View in PubMed
  • Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.. View in PubMed
  • Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants. Epilepsia. 2024 Sep; 65(9):2728-2750.. View in PubMed
  • Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Cell Death Dis. 2024 05 30; 15(5):379.. View in PubMed
  • Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv. 2024 Jan 26.. View in PubMed
  • Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings Neurol Neuroimmunol Neuroinflamm. 2024 03; 11(2):e200194. O’Ne . View in PubMed
  • Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome. Hum Mol Genet. 2023 04 20; 32(9):1552-1564.. View in PubMed
  • Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population. Am J Med Genet A. 2022 10; 188(10):3110-3117.. View in PubMed

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