Jessica X. Chong

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-05-19

• Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

  UNC Libraries · 2026-05-06

• MYB Haploinsufficiency Causes Familial Autoimmune Cytopenias

  Journal of Human Immunity · 2026-05-01

• Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples

  The American Journal of Human Genetics · 2026-04-27

• A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

  UNC Libraries · 2026-01-23

• GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

  The American Journal of Human Genetics · 2025-12-23

• A systematic assessment of large language models’ knowledge of rare diseases: How much do large language models know about rare disease?

  Human Genetics and Genomics Advances · 2025-12-11 · 3 citations

• Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX

  Genetics in Medicine Open · 2025-11-20

• Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsPreprint

  medRxiv · 2025-11-13 · 3 citations

• GREGoR: accelerating genomics for rare diseasesPreprint

  Nature · 2025-11-12 · 14 citations

• Abstract 4366327: Diagnostic Yield and Clinical Impact of Routine Genome Sequencing in Cardiovascular Patients

  Circulation · 2025-11-03

• Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff DiseasesPreprint

  medRxiv · 2025-08-08 · 1 citations

• Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis

  Human Genetics and Genomics Advances · 2025-06-03 · 1 citations

• Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-05-17

• High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

  Journal of Medical Case Reports · 2025-05-13 · 2 citations

• The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans

  Human Genetics and Genomics Advances · 2025-05-05 · 1 citations

• Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study

  Birth Defects Research · 2025-04-30 · 1 citations

• Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

  npj Genomic Medicine · 2025-03-21 · 1 citations

• GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersPreprint

  medRxiv · 2025-03-06 · 3 citations

• SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

  The American Journal of Human Genetics · 2025-02-24 · 15 citations