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Peer-reviewedCC BYJID innovations : skin science from molecules to population health

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

  • Victor Grentzinger1
  • Maria Artesi1
  • Leonor Palmeira2
  • Nathalie Renotte2
  • Nadine Cambisano2
  • Vinciane Dideberg1
  • Laura Helou2
  • Benoit Charloteaux2
  • Bita Dezfoulian2
  • Gilles Absil2
  • Justine Pêtre3
  • Murielle Sabatiello2
10 more authors
  • Colombine Meunier4
  • W.H. Irwin McLean5
  • Aileen Sandilands5
  • Maeve A. McAleer6
  • Alan D. Irvine6
  • Annette Uwineza7
  • Alice Amani Uwajeni8
  • Sabine Olivier9
  • Keith Durkin1
  • Vincent Bours1
9 affiliations
  1. 1Laboratory of Human Genetics, GIGA Research Institute, Liège, Belgium;
  2. 2Center of Genetics, University Hospital, Liège, Belgium
  3. 3Department of Pediatric Dermatology, Clinique CHC MontLegia, Liège, Belgium
  4. 4Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium
  5. 5Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, United Kingdom
  6. 6Clinical Medicine, Trinity College Dublin, Dublin, Ireland
  7. 7Department of Biochemistry, Molecular Biology and Genetics, University of Rwanda, Kigali, Rwanda
  8. 8Department of Dermatology, Centre Hospitalier University of Kigali (CHUK), Kigali, Rwanda
  9. 9Theratopix Pharma S.A., Liège, Belgium
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Cite

BibTeXRIS
BibTeX
@article{grentzinger2026longread,
  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},
  journal = {JID innovations : skin science from molecules to population health},
  year = {2026},
  month = aug,
  url = {https://europepmc.org/article/PMC/PMC13720807},
  note = {CC BY},
}
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
DA  - 2026/08/06
JO  - JID innovations : skin science from molecules to population health
UR  - https://europepmc.org/article/PMC/PMC13720807
SN  - 2667-0267
ER  -