Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in <i>IFT140</i>

Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, Elise Schaefer, Isabelle Perrault, Séverine Bär, Ariane Kröll, Marion Delbarre, Manuela Antin, Anne-Sophie Leuvrey, Charline Henry, Hélène Blanché, Eva Decker, Katja Kloth, Günter Klaus, Christoph Mache, Dominique Martin-Coignard, Steven McGinn, Anne Boland, Jean-François Deleuze, Sylvie Friant, Sophie Saunier, Jean-Michel Rozet, Carsten Bergmann, Hélène Dollfus, Jean Muller

Open source

DOI: 10.1002/humu.23539
Published: 2018-05-08
Container: Human Mutation
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/humu.23539,
  title = {Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in <i>IFT140</i>},
  author = {Véronique Geoffroy and Corinne Stoetzel and Sophie Scheidecker and Elise Schaefer and Isabelle Perrault and Séverine Bär and Ariane Kröll and Marion Delbarre and Manuela Antin and Anne-Sophie Leuvrey and Charline Henry and Hélène Blanché and Eva Decker and Katja Kloth and Günter Klaus and Christoph Mache and Dominique Martin-Coignard and Steven McGinn and Anne Boland and Jean-François Deleuze and Sylvie Friant and Sophie Saunier and Jean-Michel Rozet and Carsten Bergmann and Hélène Dollfus and Jean Muller},
  year = {2018},
  journal = {Human Mutation},
  doi = {10.1002/humu.23539},
  url = {https://doi.org/10.1002/humu.23539}
}

RIS

TY  - JOUR
TI  - Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in <i>IFT140</i>
AU  - Véronique Geoffroy
AU  - Corinne Stoetzel
AU  - Sophie Scheidecker
AU  - Elise Schaefer
AU  - Isabelle Perrault
AU  - Séverine Bär
AU  - Ariane Kröll
AU  - Marion Delbarre
AU  - Manuela Antin
AU  - Anne-Sophie Leuvrey
AU  - Charline Henry
AU  - Hélène Blanché
AU  - Eva Decker
AU  - Katja Kloth
AU  - Günter Klaus
AU  - Christoph Mache
AU  - Dominique Martin-Coignard
AU  - Steven McGinn
AU  - Anne Boland
AU  - Jean-François Deleuze
AU  - Sylvie Friant
AU  - Sophie Saunier
AU  - Jean-Michel Rozet
AU  - Carsten Bergmann
AU  - Hélène Dollfus
AU  - Jean Muller
PY  - 2018
JO  - Human Mutation
DO  - 10.1002/humu.23539
UR  - https://doi.org/10.1002/humu.23539
ER  -

APA

Geoffroy, V., Stoetzel, C., Scheidecker, S., Schaefer, E., Perrault, I., Bär, S., Kröll, A., Delbarre, M., Antin, M., Leuvrey, A., Henry, C., Blanché, H., Decker, E., Kloth, K., Klaus, G., Mache, C., Martin-Coignard, D., McGinn, S., Boland, A., Deleuze, J., Friant, S., Saunier, S., Rozet, J., Bergmann, C., Dollfus, H., & Muller, J. (2018). Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in <i>IFT140</i>. Human Mutation. https://doi.org/10.1002/humu.23539

Source records

crossref · retrieved 2026-09-26T03:08:59.097Z