@article{thomas:hal-03790588,
TITLE = {Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Hu{\"e}t anomaly},
AUTHOR = {Thomas, Quentin and Motta, Marialetizia and Gautier, Thierry and Zaki, Maha and Ciolfi, Andrea and Paccaud, Julien and Girodon, Fran{\c c}ois and Boespflug-Tanguy, Odile and Besnard, Thomas and Kerkhof, Jennifer and Mcconkey, Haley and Masson, Aymeric and Denomm{\'e}-Pichon, Anne-Sophie and Cogn{\'e},
Benjamin and Trochu, Eva and Vignard, Virginie and El It, Fatima and Rodan, Lance and Alkhateeb, Mohammad Ayman and Jamra, Rami Abou and Duplomb, Laurence and Tisserant, Emilie and Duffourd, Yannis and Bruel, Ange-Line and Jackson, Adam and Banka, Siddharth and Mcentagart, Meriel and Saggar, Anand and Gleeson, Joseph and Sievert, David and Bae, Hyunwoo and Lee, Beom Hee and Kwon, Kisang and Seo, Go Hun and Lee, Hane and Saeed, Anjum and Anjum, Nadeem and Cheema, Huma and Alawbathani, Salem and Khan, Imran and Pinto-Basto, Jorge and Teoh, Joyce and Wong, Jasmine and Sahari, Umar Bin Mohamad and Houlden, Henry and Zhelcheska, Kristina and Pannetier, Melanie and Awad, Mona and Lesieur-Sebellin, Marion and Barcia, Giulia and Amiel, Jeanne and Delanne, Julian and Philippe, Christophe and Faivre, Laurence and Odent, Sylvie and Bertoli-Avella, Aida and Thauvin, Christel and Sadikovic, Bekim and Reversade, Bruno and Maroofian, Reza and Govin, J{\'e}r{\^o}me and Tartaglia, Marco and Vitobello, Antonio},
URL = {https://univ-rennes.hal.science/hal-03790588},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {109},
NUMBER = {10},
PAGES = {1909-1922},
YEAR = {2022},
MONTH = Aug, DOI = {10.1016/j.ajhg.2022.08.008},
KEYWORDS = {neurodevelopmental disorder ; nuclear envelope instability ; transcriptomics ; translocon dysfunction ; DNA methylation ; LBR ; Pelger-Hu{\"e}t anomaly ; TMEM147 ; facial dysmorphism ; intellectual disability},
PDF = {https://univ-rennes.hal.science/hal-03790588/file/PIIS0002929722003603.pdf},
HAL_ID = {hal-03790588},
HAL_VERSION = {v1},
}