Long-read sequencing of FLG identifies extensive copy number variation in exon 3 and detects rare loss-of-function variants

Victor Grentzinger, Maria Artesi, Leonor Palmeira, Nathalie Renotte, Nadine Cambisano, Vinciane Dideberg, Laura Helou, Benoit Charloteaux, Bita Dezfoulian, Gilles Absil, Justine Pêtre, Murielle Sabatiello, Colombine Meunier, W.H. Irwin McLean, Aileen Sandilands, Maeve A. McAleer, Alan D. Irvine, Annette Uwineza, Alice Amani Uwajeni, Sabine Olivier, Keith Durkin, Vincent Bours

Open source

DOI
10.1016/j.xjidi.2026.100522
Published
2026-11
Container
JID Innovations
Publisher
Elsevier BV
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.xjidi.2026.100522,
  title = {Long-read sequencing of FLG identifies extensive copy number variation in exon 3 and detects rare loss-of-function variants},
  author = {Victor Grentzinger and Maria Artesi and Leonor Palmeira and Nathalie Renotte and Nadine Cambisano and Vinciane Dideberg and Laura Helou and Benoit Charloteaux and Bita Dezfoulian and Gilles Absil and Justine Pêtre and Murielle Sabatiello and Colombine Meunier and W.H. Irwin McLean and Aileen Sandilands and Maeve A. McAleer and Alan D. Irvine and Annette Uwineza and Alice Amani Uwajeni and Sabine Olivier and Keith Durkin and Vincent Bours},
  year = {2026},
  journal = {JID Innovations},
  doi = {10.1016/j.xjidi.2026.100522},
  url = {https://doi.org/10.1016/j.xjidi.2026.100522}
}

RIS

TY  - JOUR
TI  - Long-read sequencing of FLG identifies extensive copy number variation in exon 3 and detects rare loss-of-function variants
AU  - Victor Grentzinger
AU  - Maria Artesi
AU  - Leonor Palmeira
AU  - Nathalie Renotte
AU  - Nadine Cambisano
AU  - Vinciane Dideberg
AU  - Laura Helou
AU  - Benoit Charloteaux
AU  - Bita Dezfoulian
AU  - Gilles Absil
AU  - Justine Pêtre
AU  - Murielle Sabatiello
AU  - Colombine Meunier
AU  - W.H. Irwin McLean
AU  - Aileen Sandilands
AU  - Maeve A. McAleer
AU  - Alan D. Irvine
AU  - Annette Uwineza
AU  - Alice Amani Uwajeni
AU  - Sabine Olivier
AU  - Keith Durkin
AU  - Vincent Bours
PY  - 2026
JO  - JID Innovations
DO  - 10.1016/j.xjidi.2026.100522
UR  - https://doi.org/10.1016/j.xjidi.2026.100522
ER  - 

APA

Grentzinger, V., Artesi, M., Palmeira, L., Renotte, N., Cambisano, N., Dideberg, V., Helou, L., Charloteaux, B., Dezfoulian, B., Absil, G., Pêtre, J., Sabatiello, M., Meunier, C., McLean, W. I., Sandilands, A., McAleer, M. A., Irvine, A. D., Uwineza, A., Uwajeni, A. A., Olivier, S., Durkin, K., & Bours, V. (2026). Long-read sequencing of FLG identifies extensive copy number variation in exon 3 and detects rare loss-of-function variants. JID Innovations. https://doi.org/10.1016/j.xjidi.2026.100522

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