Resolving structural variations missed by short-read sequencing uncovers their pathogenicity

Caroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, Nicolas Chatron, Marion Beaumont, Nicolas Reynaud, Kevin Uguen, Flavie Diguet, Audrey Labalme, Claire Bardel, Tuomo Mantere, Vérane Bard, Andreea Apetrei, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Christin-Maître, Francoise Devillard, Melanie Fradin, Bertrand Isidor, Anna Lokchine, Sylvie Jaillard, Robert Olaso, Massimiliano Rossi, Stéphanie Valence, Jean-François Deleuze, Alexander Hoischen, Jean-Pierre Siffroi, Damien Sanlaville

Open source

DOI: 10.1136/jmg-2025-110838
Published: 2025-08-20
Container: Journal of Medical Genetics
Publisher: BMJ
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmg-2025-110838,
  title = {Resolving structural variations missed by short-read sequencing uncovers their pathogenicity},
  author = {Caroline Schluth-Bolard and Laïla El Khattabi and Pierre-Antoine Rollat-Farnier and Nicolas Chatron and Marion Beaumont and Nicolas Reynaud and Kevin Uguen and Flavie Diguet and Audrey Labalme and Claire Bardel and Tuomo Mantere and Vérane Bard and Andreea Apetrei and Alexandra Afenjar and Florence Amblard and Jeanne Amiel and Sophie Christin-Maître and Francoise Devillard and Melanie Fradin and Bertrand Isidor and Anna Lokchine and Sylvie Jaillard and Robert Olaso and Massimiliano Rossi and Stéphanie Valence and Jean-François Deleuze and Alexander Hoischen and Jean-Pierre Siffroi and Damien Sanlaville},
  year = {2025},
  journal = {Journal of Medical Genetics},
  doi = {10.1136/jmg-2025-110838},
  url = {https://doi.org/10.1136/jmg-2025-110838}
}

RIS

TY  - JOUR
TI  - Resolving structural variations missed by short-read sequencing uncovers their pathogenicity
AU  - Caroline Schluth-Bolard
AU  - Laïla El Khattabi
AU  - Pierre-Antoine Rollat-Farnier
AU  - Nicolas Chatron
AU  - Marion Beaumont
AU  - Nicolas Reynaud
AU  - Kevin Uguen
AU  - Flavie Diguet
AU  - Audrey Labalme
AU  - Claire Bardel
AU  - Tuomo Mantere
AU  - Vérane Bard
AU  - Andreea Apetrei
AU  - Alexandra Afenjar
AU  - Florence Amblard
AU  - Jeanne Amiel
AU  - Sophie Christin-Maître
AU  - Francoise Devillard
AU  - Melanie Fradin
AU  - Bertrand Isidor
AU  - Anna Lokchine
AU  - Sylvie Jaillard
AU  - Robert Olaso
AU  - Massimiliano Rossi
AU  - Stéphanie Valence
AU  - Jean-François Deleuze
AU  - Alexander Hoischen
AU  - Jean-Pierre Siffroi
AU  - Damien Sanlaville
PY  - 2025
JO  - Journal of Medical Genetics
DO  - 10.1136/jmg-2025-110838
UR  - https://doi.org/10.1136/jmg-2025-110838
ER  -

APA

Schluth-Bolard, C., Khattabi, L. E., Rollat-Farnier, P., Chatron, N., Beaumont, M., Reynaud, N., Uguen, K., Diguet, F., Labalme, A., Bardel, C., Mantere, T., Bard, V., Apetrei, A., Afenjar, A., Amblard, F., Amiel, J., Christin-Maître, S., Devillard, F., Fradin, M., Isidor, B., Lokchine, A., Jaillard, S., Olaso, R., Rossi, M., Valence, S., Deleuze, J., Hoischen, A., Siffroi, J., & Sanlaville, D. (2025). Resolving structural variations missed by short-read sequencing uncovers their pathogenicity. Journal of Medical Genetics. https://doi.org/10.1136/jmg-2025-110838

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crossref · retrieved 2026-09-26T22:48:54.170Z