Jessica X. Chong
0000-0002-1616-2448
Publication & Citation Trends
Publications
154 total
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships OA
Cited by 0
Semantic Scholar
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders OA
Cited by 4
Semantic Scholar
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX
Cited by 0
Semantic Scholar
Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study
Cited by 0
Semantic Scholar
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX
Cited by 0
Semantic Scholar
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Cited by 1
Semantic Scholar
GREGoR: accelerating genomics for rare diseases
Cited by 8
Semantic Scholar
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
Cited by 0
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(58)
Genomic variations and chromosomal abnormalities
(26)
Cancer Genomics and Diagnostics
(14)
Neurogenetic and Muscular Disorders Research
(13)
Genetic Associations and Epidemiology
(11)
Affiliations
Roosevelt University
Seattle Pacific University
Seattle Children's Hospital
Children's National
University of Waterloo