@article{engel:hal-04254205,
TITLE = {BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients},
AUTHOR = {Engel, Camille and Valence, Stephanie and Delplancq, Geoffroy and Maroofian, Reza and Accogli, Andrea and Agolini, Emanuele and Alkuraya, Fowzan S. and Baglioni, Valentina and Bagnasco, Irene and Becmeur-Lefebvre, Mathilde and Bertini, Enrico and Borggraefe, Ingo and Brischoux-Boucher, Elise and Bruel, Ange-Line and Brusco, Alfredo and Bubshait, Dalal K. and Cabrol, Christelle and Cilio, Maria Roberta and Cornet, Marie-Coralie and Coubes, Christine and Danhaive, Olivier and Delague, Val{\'e}rie and Denomme-Pichon, Anne-Sophie and Di Giacomo, Marilena Carmela and Doco-Fenzy, Martine and Engels, Hartmut and Cremer, Kirsten and Gerard, Marion and Gleeson, Joseph G. and Heron, Delphine and Goffeney, Joanna and Guimier, Anne and Harms, Frederike L. and Houlden, Henry and Iacomino, Michele and Kaiyrzhanov, Rauan and Kamien, Benjamin and Karimiani, Ehsan Ghayoor and Kraus, Dror and Kuentz, Paul and Kutsche, Kerstin and Lederer, Damien and Massingham, Lauren and Mignot, Cyril and Morris-Rosendahl, Deborah and Nagarajan, Lakshmi and Odent, Sylvie and Ormieres, Clothilde and Partlow, Jennifer Neil and Pasquier, Laurent and Penney, Lynette and Philippe, Christophe and Piccolo, Gianluca and Poulton, Cathryn and Putoux, Audrey and Rio, Marlene and Rougeot, Christelle and Salpietro, Vincenzo and Scheffer, Ingrid and Schneider, Amy and Srivastava, Siddharth and Straussberg, Rachel and Striano, Pasquale and Valente, Enza Maria and Venot, Perrine and Villard, Laurent and Vitobello, Antonio and Wagner, Johanna and Wagner, Matias and Zaki, Maha S. and Zara, Federizo and Lesca, Gaetan and Yassaee, Vahid Reza and Miryounesi, Mohammad and Hashemi-Gorji, Farzad and Beiraghi, Mehran and Ashrafzadeh, Farah and Galehdari, Hamid and Walsh, Christopher and Novelli, Antonio and Tacke, Moritz and Sadykova, Dinara and Maidyrov, Yerdan and Koneev, Kairgali and Shashkin, Chingiz and Capra, Valeria and Zamani, Mina and Van Maldergem, Lionel and Burglen, Lydie and Piard, Juliette},
URL = {https://amu.hal.science/hal-04254205},
JOURNAL = {European Journal of Human Genetics},
PUBLISHER = {Nature Publishing Group},
VOLUME = {31},
NUMBER = {9},
PAGES = {1023-1031},
YEAR = {2023},
MONTH = Jun, DOI = {10.1038/s41431-023-01410-z},
PDF = {https://amu.hal.science/hal-04254205/file/BRAT1.pdf},
HAL_ID = {hal-04254205},
HAL_VERSION = {v1},
}