@article{kumble:hal-03519376,
TITLE = {The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder},
AUTHOR = {Kumble, Smitha and Levy, Amanda and Punetha, Jaya and Gao, Hua and Ah Mew, Nicholas and Anyane-Yeboa, Kwame and Benke, Paul and Berger, Sara and Bjerglund, Lise and Campos-Xavier, Belinda and Ciliberto, Michael and Cohen, Julie and Comi, Anne and Curry, Cynthia and Damaj, Lena and Denomm{\'e}-Pichon, Anne-Sophie and Emrick, Lisa and Faivre, Laurence and Fasano, Mary Beth and Fi{\'e}vet, Alice and Finkel, Richard and Garc{\'i}a-Mi{\~n}a{\'u}r, Sixto and Gerard, Amanda and Gomez-Puertas, Paulino and Guillen Sacoto, Maria and Hoffman, Trevor and Howard, Lillian and Iglesias, Alejandro and Izumi, Kosuke and Larson, Austin and Leiber, Anja and Lozano, Reymundo and Marcos-Alcalde, I{\~n}igo and Mintz, Cassie and Mullegama, Sureni and M{\o}ller, Rikke and Odent, Sylvie and Oppermann, Henry and Ostergaard, Elsebet and Pacio-M{\'i}guez, Marta and Palomares-Bralo, Maria and Parikh, Sumit and Paulson, Anna and Platzer, Konrad and Posey, Jennifer and Potocki, Lorraine and Revah-Politi, Anya and Rio, Marlene and Ritter, Alyssa and Robinson, Scott and Rosenfeld, Jill and Santos-Simarro, Fernando and Anyane-yeboa, Kwame and Campos-xavier, Belinda and Denomm{\'e}-pichon, Anne-sophie and Garc{\'i}a-mi{\~n}a{\'u}r, Sixto and Gomez-puertas, Paulino and Marcos-alcalde, I{\~n}igo and Pacio-m{\'i}guez, Marta and Palomares-bralo, Maria and Revah-politi, Anya and Santos-simarro, Fernando and Sombra, S{\'e}rgio Sousa and W{\'e}ber, Mathys and Xie, Yili and Chung, Wendy K. and Brown, Natasha J and T{\"u}mer, Zeynep},
URL = {https://univ-rennes.hal.science/hal-03519376},
JOURNAL = {Human Mutation},
PUBLISHER = {Wiley},
VOLUME = {43},
NUMBER = {2},
PAGES = {266-282},
YEAR = {2022},
MONTH = Feb, DOI = {10.1002/humu.24308},
KEYWORDS = {QRICH1 ; hypotonia ; intellectual disability ; short stature ; variable expressivity ; variant},
PDF = {https://univ-rennes.hal.science/hal-03519376/file/Kumble%20et%20al-2021-The%20clinical%20and%20molecular%20spectrum%20of%20QRICH1%20associated%20neurodevelopmental.pdf},
HAL_ID = {hal-03519376},
HAL_VERSION = {v1},
}