Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
2017 · Genetics in Medicine · 52 citations
https://doi.org/10.1038/gim.2017.128
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Katrina M. Dipple
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Katrina M. Dipple is an academic researcher from Pacific Northwest Diabetes Research Institute. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 40, co-authored 142 publications.
Papers by this author
worksCommonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
2021 · Genetics in Medicine · 32 citations
https://doi.org/10.1038/s41436-020-01084-8
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
2024 · The Journal of Experimental Medicine · 32 citations
https://doi.org/10.1084/jem.20232005
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
2025 · Nature Genetics · 28 citations
https://doi.org/10.1038/s41588-024-02067-0
Development of catecholamine and cortisol stress responses in zebrafish
2014 · Molecular Genetics and Metabolism Reports · 26 citations
https://doi.org/10.1016/j.ymgmr.2014.08.003
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
2023 · npj Genomic Medicine · 16 citations
https://doi.org/10.1038/s41525-022-00343-8
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