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

Edwin Cuperus, Suzanne G M A Pasmans, Henry L Han, Adam S Arterbery, Daniel Danis, Michel van Geel, Cristina Has, Lisa Weibel, Katariina Hannula-Jouppi, Christine Bodemer, Alain Hovnanian, Peter N Robinson, Mariëlle E van Gijn

Open source

DOI
10.1093/bjd/ljag249
Published
2026-06-16
Container
British Journal of Dermatology
Publisher
Oxford University Press (OUP)
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 (
                    <i>SPINK5</i>
                    -syndromic epidermal differentiation disorder)},
  author = {Edwin Cuperus and Suzanne G M A Pasmans and Henry L Han and Adam S Arterbery and Daniel Danis and Michel van Geel and Cristina Has and Lisa Weibel and Katariina Hannula-Jouppi and Christine Bodemer and Alain Hovnanian and Peter N Robinson and Mariëlle E van Gijn},
  year = {2026},
  journal = {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 (
                    <i>SPINK5</i>
                    -syndromic epidermal differentiation disorder)
AU  - Edwin Cuperus
AU  - Suzanne G M A Pasmans
AU  - Henry L Han
AU  - Adam S Arterbery
AU  - Daniel Danis
AU  - Michel van Geel
AU  - Cristina Has
AU  - Lisa Weibel
AU  - Katariina Hannula-Jouppi
AU  - Christine Bodemer
AU  - Alain Hovnanian
AU  - Peter N Robinson
AU  - Mariëlle E van Gijn
PY  - 2026
JO  - British Journal of Dermatology
DO  - 10.1093/bjd/ljag249
UR  - https://doi.org/10.1093/bjd/ljag249
ER  - 

APA

Cuperus, E., Pasmans, S. G. M. A., Han, H. L., Arterbery, A. S., Danis, D., Geel, M. V., Has, C., Weibel, L., Hannula-Jouppi, K., Bodemer, C., Hovnanian, A., Robinson, P. N., & Gijn, M. E. V. (2026). In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome ( <i>SPINK5</i> -syndromic epidermal differentiation disorder). British Journal of Dermatology. https://doi.org/10.1093/bjd/ljag249

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