@article{delvallee:hal-03007093,
TITLE = {A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome},
AUTHOR = {Delvall{\'e}e, Clarisse and Nicaise, Samuel and Antin, Manuela and Leuvrey, Anne-Sophie and Nourisson, Elsa and Leitch, Carmen C and Kellaris, Georgios and Stoetzel, Corinne and Geoffroy, V{\'e}ronique and Scheidecker, Sophie and Keren, Boris and Depienne, Christel and Klar, Joakim and Dahl, Niklas and Deleuze, Jean-Fran{\c c}ois and G{\'e}nin, Emmanuelle and Redon, Richard and Demurger, Florence and Devriendt, K and Mathieu-Dramard, Michele and Poitou-Bernert, Christine and Odent, Sylvie and Katsanis, Nicholas and Mandel, Jean-Louis and Davis, Erica E and Dollfus, H{\'e}l{\`e}ne and Muller, Jean},
URL = {https://hal.science/hal-03007093},
JOURNAL = {Clinical Genetics},
PUBLISHER = {Wiley},
VOLUME = {99},
NUMBER = {2},
PAGES = {318-324},
YEAR = {2021},
MONTH = Feb, DOI = {10.1111/cge.13878},
KEYWORDS = {BBS1 ; Bardet-Biedl syndrome ; Mobile element insertion ; SVA F ; founder effect},
PDF = {https://hal.science/hal-03007093/file/Delvall%C3%A9e-2020-A%20BBS1%20SVA%20F%20retrotransposon%20insertion%20is%20a%20frequent%20cause%20of%20Bardet-Biedl%20syndrome.pdf},
HAL_ID = {hal-03007093},
HAL_VERSION = {v1},
}