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SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

Title:	SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
Authors:	Gérard, Laurène^Aff1; Delourme, Mégane^Aff2; Tardy, Charlotte^{Aff1, Aff2}; Ganne, Benjamin^Aff2; Perrin, Pierre^Aff2; Chaix, Charlene^Aff1; Trani, Jean Philippe^Aff2; Eudes, Nathalie^Aff2; Laberthonnière, Camille^Aff2; Bertaux, Karine^{Aff1, Aff3}; Missirian, Chantal^{Aff1, Aff2}; Bassez, Guillaume^{Aff4, Aff5}; Behin, Anthony^Aff4; Cintas, Pascal^Aff6; Cluse, Florent^Aff7; De La Cruz, Elisa^Aff8; Delmont, Emilien^Aff9; Evangelista, Teresinha^{Aff4, Aff5}; Fradin, Mélanie^Aff10; Hadouiri, Nawale^{Aff11, Aff12}; Kouton, Ludivine^Aff9; Laforêt, Pascal^{Aff13, Aff14}; Lefeuvre, Claire^Aff13; Magot, Armelle^Aff15; Manel, Véronique^Aff16; Nectoux, Juliette^Aff17; Pegat, Antoine^Aff7; Sole, Guilhem^Aff18; Spinazzi, Marco^Aff19; Stojkovic, Tanya^Aff4; Svahn, Juliette^Aff7; Tard, Celine^{Aff20, Aff21}; Thauvin, Christel^{Aff11, Aff22}; Verebi, Camille^Aff17; Salort Campana, Emmanuelle^{Aff2, Aff9}; Attarian, Shahram^{Aff2, Aff9}; Nguyen, Karine^{Aff1, Aff2}; Badache, Ali^Aff2; Bernard, Rafaëlle^{Aff1, Aff2}; Magdinier, Frédérique^{Aff2, IDs4143102401781x_cor1}
Source:	European Journal of Human Genetics. 33(6):784-792
Database:	Springer Nature Journals