<i>NT5E</i> Mutations and Arterial Calcifications
2011 · New England Journal of Medicine · 444 citations
https://doi.org/10.1056/nejmoa0912923
T
Thomas C. Markello
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Thomas C. Markello is an academic researcher from National Human Genome Research Institute. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 49, co-authored 129 publications.
ORCID: 0000-0002-2298-9759Papers by this author
worksLooking 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
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
2015 · Orphanet Journal of Rare Diseases · 35 citations
https://doi.org/10.1186/s13023-015-0235-8
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
Explorations to improve the completeness of exome sequencing
2016 · BMC Medical Genomics · 11 citations
https://doi.org/10.1186/s12920-016-0216-3
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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