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
J
Jean M. Johnston
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Jean M. Johnston is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Glycosylation and Glycoproteins Research & Cellular transport and secretion. The author has an h-index of 26, co-authored 72 publications.
Papers by this author
worksA feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)
2020 · Orphanet Journal of Rare Diseases · 12 citations
https://doi.org/10.1186/s13023-020-01473-x
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts
2025 · Orphanet Journal of Rare Diseases · 9 citations
https://doi.org/10.1186/s13023-025-03614-6
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses
2024 · Molecular Genetics and Metabolism · 7 citations
https://doi.org/10.1016/j.ymgme.2024.108512
Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients
2025 · Molecular Genetics and Metabolism · 6 citations
https://doi.org/10.1016/j.ymgme.2025.109025
Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
2023 · Stem Cell Research · 5 citations
https://doi.org/10.1016/j.scr.2023.103211
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