Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Nature · 568 citations
https://doi.org/10.1038/s41586-020-2434-2
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Kimberly Gilmour
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Kimberly Gilmour is an academic researcher. The author has contributed to research in topics: Immunodeficiency and Autoimmune Disorders & Immune Cell Function and Interaction & CAR-T cell therapy research. The author has an h-index of 67, co-authored 246 publications.
ORCID: 0000-0003-0285-3958Papers by this author
worksThe Human Phenotype Ontology in 2024: phenotypes around the world
2023 · Nucleic Acids Research · 337 citations
https://doi.org/10.1093/nar/gkad1005
Germline selection shapes human mitochondrial DNA diversity
2019 · Science · 247 citations
https://doi.org/10.1126/science.aau6520
Thymus transplantation for complete DiGeorge syndrome: European experience
2017 · Journal of Allergy and Clinical Immunology · 132 citations
https://doi.org/10.1016/j.jaci.2017.03.020
Evaluation of a novel multiplexed assay for determining IgG levels and functional activity to SARS-CoV-2
2020 · Journal of Clinical Virology · 114 citations
https://doi.org/10.1016/j.jcv.2020.104572
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
2016 · Nature Communications · 113 citations
https://doi.org/10.1038/ncomms13992
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