John Pappas

Clinical Instructor of Psychiatry and the Behavioral Sciences (Practitioner)

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Publications

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome. Genome Med. 2026 Aug 22; 18(1).. View in PubMed
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations. Am J Med Genet A. 2026 Sep; 200(9):2010-2018.. View in PubMed
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother. Am J Med Genet A. 2026 05; 200(5):1121-1127.. View in PubMed
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2026 01 08; 113(1):100-116.. View in PubMed
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. Nat Commun. 2025 Nov 26; 16(1):10545.. View in PubMed
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder. Genet Med. 2025 Nov; 27(11):101555.. View in PubMed
A Case Report of Primary Ovarian Failure in an Adolescent Associated With a Homozygous Pathogenic Variant in the Mitochondrial Poly-A-Polymerase Gene (MTPAP). J Pediatr Adolesc Gynecol. 2025 Oct; 38(5):637-639.. View in PubMed
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder. medRxiv. 2025 Apr 01.. View in PubMed
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum. Am J Hum Genet. 2025 03 06; 112(3):554-571.. View in PubMed
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. Am J Hum Genet. 2025 02 06; 112(2):394-413.. View in PubMed

John Pappas

Publications

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