Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases
2023 · Cell Genomics · 6 citations
https://doi.org/10.1016/j.xgen.2023.100258
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Krista Bluske
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Krista Bluske is an academic researcher from Illumina (United States). The author has contributed to research in topics: Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities & Genetics and Neurodevelopmental Disorders. The author has an h-index of 7, co-authored 17 publications.
Papers by this author
worksGenome-wide profiling of highly similar paralogous genes using HiFi sequencing
2025 · Nature Communications · 5 citations
https://doi.org/10.1038/s41467-025-57505-2
Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report
2025 · Clinical Neurology and Neurosurgery · 0 citations
https://doi.org/10.1016/j.clineuro.2025.108823
P226: Genome sequencing after negative exome sequencing: Results in a rare disease cohort
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.102191
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