PS
Patricia J Sullivan
Children's National Medical Center, Children's Cancer Institute Australia, University of New South Wales
0000-0002-4886-8883
Employment
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Children's National Medical Center Data Scientist II2025 - Present
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Children's Cancer Institute Australia Bioinformatics Research Officer2024 - 2025
Education
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Children's Cancer Institute Australia PhD2020 - 2024
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University of New South Wales BAdvSci (Biotechnology and Genetics) (Hons 1 Bioinformatics)2016 - 2020
Projects & Funding
Projects & funding information is unavailable.
Publications (11)
- Expanding the utility of transcriptome analysis for mutation detection in high-risk childhood precision oncology Save
- Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum Save
- SpliceVarDB: A comprehensive database of experimentally validated human splicing variants Save
- Alternative splicing in pediatric central nervous system tumors highlights oncofetal candidate CLK1 exon 4 Save
- Beyond DNA sequencing: genetic kidney disorders related to altered splicing Save
- Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD Save
- A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism Save
- Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants Save
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Save
- Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability Save