In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome ( <i>SPINK5</i> -syndromic epidermal differentiation disorder)
- 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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Cite this work
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
Source records
- crossref · retrieved 2026-09-25T02:11:59.521Z