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Patricia J Sullivan

Showing results (1-10 of 7) with videos related to

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American Journal of Human Genetics|September 3, 2024
SpliceVarDB: A comprehensive database of experimentally validated human splicing variantsPatricia J Sullivan, Julian M W Quinn, Weilin Wu, et al.
American Journal of Human Genetics|March 8, 2025
Data-driven insights to inform splice-altering variant assessmentPatricia J Sullivan, Julian M W Quinn, Pamela Ajuyah, et al.
NPJ Precision Oncology|October 19, 2024
Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan SyndromeJordan Staunton, Pamela Ajuyah, Angela Harris, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Neuro-Oncology Pediatrics|March 30, 2026
Alternative splicing in pediatric central nervous system tumors highlights oncofetal candidate <i>CLK1</i> exon 4Ammar S Naqvi, Patricia J Sullivan, Ryan J Corbett, et al.
Nature Communications|November 21, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumorsRyan J Corbett, Rebecca S Kaufman, Shelly W McQuaid, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
American Journal of Human Genetics|September 3, 2024
SpliceVarDB: A comprehensive database of experimentally validated human splicing variantsPatricia J Sullivan, Julian M W Quinn, Weilin Wu, et al.
American Journal of Human Genetics|March 8, 2025
Data-driven insights to inform splice-altering variant assessmentPatricia J Sullivan, Julian M W Quinn, Pamela Ajuyah, et al.
NPJ Precision Oncology|October 19, 2024
Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan SyndromeJordan Staunton, Pamela Ajuyah, Angela Harris, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Neuro-Oncology Pediatrics|March 30, 2026
Alternative splicing in pediatric central nervous system tumors highlights oncofetal candidate <i>CLK1</i> exon 4Ammar S Naqvi, Patricia J Sullivan, Ryan J Corbett, et al.
Nature Communications|November 21, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumorsRyan J Corbett, Rebecca S Kaufman, Shelly W McQuaid, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
Pageof 1