John Pappas

Clinical Instructor of Psychiatry and the Behavioral Sciences (Practitioner)

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Publications

Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048.. View in PubMed
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis. Mol Genet Genomic Med. 2020 10; 8(10):e1405.. View in PubMed
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.. View in PubMed
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. Am J Hum Genet. 2019 11 07; 105(5):1023-1029.. View in PubMed
Comparing Characteristics of Patients Who Connect Their iPhones to an Electronic Health Records System Versus Patients Who Connect Without Personal Devices: Cohort Study. J Med Internet Res. 2019 08 22; 21(8):e14871.. View in PubMed
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Am J Med Genet A. 2019 10; 179(10):2049-2055.. View in PubMed
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases. Am J Med Genet A. 2019 10; 179(10):2144-2151.. View in PubMed
Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia. Case Rep Pediatr. 2019; 2019:4178251.. View in PubMed
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019 09; 21(9):2036-2042.. View in PubMed
Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent. Am J Med Genet A. 2018 12; 176(12):2907-2910.. View in PubMed

John Pappas

Publications

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