Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa

Eddy N de Boer; L Agnes Grutters; Rosalie Baardman; Daniëlle Schoonhoven; Jeroen Bremer; Rindert R Venema; Femke Boorsma; Jelkje J de Boer-Bergsma; Gilles F H Diercks; Henny H Lemmink; Sabrina Z Commandeur-Jan; Dorieke J Dijkstra; Lennart F Johansson; Marieke C Bolling; Cleo C van Diemen; Peter C van den Akker

doi:10.1016/j.jdermsci.2025.04.014

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa

Eddy N de Boer, L Agnes Grutters, Rosalie Baardman, Daniëlle Schoonhoven, Jeroen Bremer, Rindert R Venema, Femke Boorsma, Jelkje J de Boer-Bergsma, Gilles F H Diercks, Henny H Lemmink, Sabrina Z Commandeur-Jan, Dorieke J Dijkstra, Lennart F Johansson, Marieke C Bolling, Cleo C van Diemen, Peter C van den Akker^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Original language	English
Number of pages	4
Journal	Journal of dermatological science
DOIs	https://doi.org/10.1016/j.jdermsci.2025.04.014
Publication status	E-pub ahead of print - 5-May-2025

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Long-read sequencing cracks unsolved cases and further improves genome
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de Boer, E. N., Grutters, L. A., Baardman, R., Schoonhoven, D., Bremer, J., Venema, R. R., Boorsma, F., de Boer-Bergsma, J. J., Diercks, G. F. H., Lemmink, H. H., Commandeur-Jan, S. Z., Dijkstra, D. J., Johansson, L. F., Bolling, M. C., van Diemen, C. C., & van den Akker, P. C. (2025). Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa. Journal of dermatological science. Advance online publication. https://doi.org/10.1016/j.jdermsci.2025.04.014

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title = "Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa",

author = "\{de Boer\}, \{Eddy N\} and Grutters, \{L Agnes\} and Rosalie Baardman and Dani{\"e}lle Schoonhoven and Jeroen Bremer and Venema, \{Rindert R\} and Femke Boorsma and \{de Boer-Bergsma\}, \{Jelkje J\} and Diercks, \{Gilles F H\} and Lemmink, \{Henny H\} and Commandeur-Jan, \{Sabrina Z\} and Dijkstra, \{Dorieke J\} and Johansson, \{Lennart F\} and Bolling, \{Marieke C\} and \{van Diemen\}, \{Cleo C\} and \{van den Akker\}, \{Peter C\}",

year = "2025",

month = may,

day = "5",

doi = "10.1016/j.jdermsci.2025.04.014",

language = "English",

journal = "Journal of dermatological science",

issn = "0923-1811",

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de Boer, EN , Grutters, LA , Baardman, R, Schoonhoven, D, Bremer, J , Venema, RR, Boorsma, F, de Boer-Bergsma, JJ, Diercks, GFH , Lemmink, HH, Commandeur-Jan, SZ, Dijkstra, DJ , Johansson, LF , Bolling, MC , van Diemen, CC & van den Akker, PC 2025, 'Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa', Journal of dermatological science. https://doi.org/10.1016/j.jdermsci.2025.04.014

TY - JOUR

T1 - Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa

AU - de Boer, Eddy N

AU - Grutters, L Agnes

AU - Baardman, Rosalie

AU - Schoonhoven, Daniëlle

AU - Bremer, Jeroen

AU - Venema, Rindert R

AU - Boorsma, Femke

AU - de Boer-Bergsma, Jelkje J

AU - Diercks, Gilles F H

AU - Lemmink, Henny H

AU - Commandeur-Jan, Sabrina Z

AU - Dijkstra, Dorieke J

AU - Johansson, Lennart F

AU - Bolling, Marieke C

AU - van Diemen, Cleo C

AU - van den Akker, Peter C

PY - 2025/5/5

Y1 - 2025/5/5

U2 - 10.1016/j.jdermsci.2025.04.014

DO - 10.1016/j.jdermsci.2025.04.014

M3 - Comment/Letter to the editor

C2 - 40393845

SN - 0923-1811

JO - Journal of dermatological science

JF - Journal of dermatological science

ER -