Commonalities 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
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Kevin S. Smith
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Kevin S. Smith is an academic researcher from Palo Alto University. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & RNA Research and Splicing. The author has an h-index of 25, co-authored 68 publications.
Papers by this author
worksBi-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
De novo variants in DENND5B cause a neurodevelopmental disorder
2024 · The American Journal of Human Genetics · 8 citations
https://doi.org/10.1016/j.ajhg.2024.02.001
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
2023 · Orphanet Journal of Rare Diseases · 5 citations
https://doi.org/10.1186/s13023-022-02598-x
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
2025 · Nature Communications · 2 citations
https://doi.org/10.1038/s41467-025-61712-2
Increasing Patient Safety – OMFS Resident Training: A New Approach
2019 · ASA Monitor · 0 citations
https://doi.org/10.1097/01.asm.0001078048.04489.86
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