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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Shilpa N. Kobren
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Shilpa N. Kobren is an academic researcher from Harvard University. The author has contributed to research in topics: Genomics and Rare Diseases & RNA and protein synthesis mechanisms & Genomic variations and chromosomal abnormalities. The author has an h-index of 13, co-authored 48 publications.
ORCID: 0000-0003-1264-6098Papers by this author
worksLarge-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
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
2024 · Genome biology · 20 citations
https://doi.org/10.1186/s13059-024-03171-4
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
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
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