<i>NT5E</i> Mutations and Arterial Calcifications
2011 · New England Journal of Medicine · 444 citations
https://doi.org/10.1056/nejmoa0912923
C
Catherine Groden
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Catherine Groden is an academic researcher from National Human Genome Research Institute. The author has contributed to research in topics: Genomics and Rare Diseases & Lysosomal Storage Disorders Research & Cellular transport and secretion. The author has an h-index of 35, co-authored 78 publications.
Papers 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
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification
2016 · American Journal of Medical Genetics Part A · 32 citations
https://doi.org/10.1002/ajmg.a.37574
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
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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