Author

Julie A. Fleischer

SIU MedicineORCID 0009-0004-4054-1052Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 3 Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Organism:zebrafish· 2 Research Focus:database / resource· 1

Frequent Co-Authors

David T. Miller· 2 shared Paul J. Benke· 2 shared A L RobertsiD· 1 shared Aaron J. GoldenbergiD· 1 shared Abolfazl RadiD· 1 shared Ada HamoshiD· 1 shared Adam JacksoniD· 1 shared Adithya V. MadduriiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

David T. Miller

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 25, 2026

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

Nina B. Gold, Britt A. Johnson, Harini Somanchi…·Robert C. Green

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 16, 2025

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

12 citations

humanzebrafish

𝕏 PostBluesky

Genetic & Genomic MedicineGenome MedicinePeer-reviewedMay 21, 2021

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber…·Davor Lessel

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

35 citations

zebrafishstatistical model

𝕏 PostBluesky