In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).

Cuperus E, Pasmans SGMA, Han HL, Arterbery AS, Danis D, van Geel M, Has C, Weibel L, Hannula-Jouppi K, Bodemer C, Hovnanian A, Robinson PN, van Gijn ME

Open source

DOI
10.1093/bjd/ljag249
Published
2026 Aug 18
Container
The British journal of dermatology
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1093/bjd/ljag249,
  title = {In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).},
  author = {Cuperus E and Pasmans SGMA and Han HL and Arterbery AS and Danis D and van Geel M and Has C and Weibel L and Hannula-Jouppi K and Bodemer C and Hovnanian A and Robinson PN and van Gijn ME},
  year = {2026},
  journal = {The British journal of dermatology},
  doi = {10.1093/bjd/ljag249},
  url = {https://doi.org/10.1093/bjd/ljag249}
}

RIS

TY  - JOUR
TI  - In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).
AU  - Cuperus E
AU  - Pasmans SGMA
AU  - Han HL
AU  - Arterbery AS
AU  - Danis D
AU  - van Geel M
AU  - Has C
AU  - Weibel L
AU  - Hannula-Jouppi K
AU  - Bodemer C
AU  - Hovnanian A
AU  - Robinson PN
AU  - van Gijn ME
PY  - 2026
JO  - The British journal of dermatology
DO  - 10.1093/bjd/ljag249
UR  - https://doi.org/10.1093/bjd/ljag249
ER  - 

APA

E, C., SGMA, P., HL, H., AS, A., D, D., M, V. G., C, H., L, W., K, H., C, B., A, H., PN, R., & ME, V. G. (2026). In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).. The British journal of dermatology. https://doi.org/10.1093/bjd/ljag249

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