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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Jesmeen Maimaris
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Jesmeen Maimaris is an academic researcher from Royal Free London NHS Foundation Trust. The author has contributed to research in topics: Immunodeficiency and Autoimmune Disorders & Genomics and Rare Diseases & Immune Cell Function and Interaction. The author has an h-index of 21, co-authored 34 publications.
ORCID: 0000-0003-4169-8209Papers by this author
worksGermline 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
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
2018 · Scientific Reports · 90 citations
https://doi.org/10.1038/s41598-017-14403-y
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
2018 · The American Journal of Human Genetics · 72 citations
https://doi.org/10.1016/j.ajhg.2018.04.013
Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations
2025 · Journal of Clinical Immunology · 5 citations
https://doi.org/10.1007/s10875-025-01878-y
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