De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
2024 · Nature · 100 citations
https://doi.org/10.1038/s41586-024-07773-7
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Cynthia J. Tifft
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Cynthia J. Tifft is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Genomics and Rare Diseases & Cellular transport and secretion. The author has an h-index of 54, co-authored 261 publications.
ORCID: 0000-0002-3931-1207Papers by this author
worksThe GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.
2016 · PubMed · 75 citations
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
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
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
The Complement Regulator Susd4 Influences Nervous-System Function and Neuronal Morphology in Mice
2020 · iScience · 23 citations
https://doi.org/10.1016/j.isci.2020.100957
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