@article{hannes:hal-04399501,
TITLE = {Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome},
AUTHOR = {Hannes, Laurens and Atzori, M and Goldenberg, Alice and Argente, Jes{\'u}s and Attie-Bitach, Tania and Amiel, Jeanne and Attanasio, Catia and Braslavsky, D{\'e}bora G and Bruel, Ange-Line and Castanet, Mireille and Dubourg, Christ{\`e}le and Jacobs, An and Lyonnet, Stanislas and Mart{\'i}nez Mayer, Juli{\'a}n and P{\'e}rez Mill{\'a}n, Mar{\'i}a Ines and Pezzella, Nunziana and Pelgrims, Elise and Aerden, Mio and Bauters, Marijke and Rochtus, Anne and Scaglia, Paula and Swillen, Ann and Sifrim, Alejandro and Tammaro, Roberta and Mau-Them, Fr{\'e}d{\'e}ric Tran and Odent, Sylvie and Thauvin-Robinet, Christel and Franco, Brunella and Breckpot, Jeroen},
URL = {https://hal.science/hal-04399501},
JOURNAL = {Genetics in Medicine},
PUBLISHER = {Nature Publishing Group},
SERIES = {Genetics in Medicine : Official Journal of the American College of Medical},
VOLUME = {26},
NUMBER = {4},
PAGES = {101059},
YEAR = {2024},
MONTH = Apr, DOI = {10.1016/j.gim.2023.101059},
KEYWORDS = {Orofaciodigital syndrome ; X-linked ; ZRSR2 ; differential splicing ; holoprosencephaly ; minor spliceosome ; transcriptomics},
HAL_ID = {hal-04399501},
HAL_VERSION = {v1},
}