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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Title:	Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Authors:	Steward, Charles A.^{Aff1, Aff2, IDs4152501901067_cor1}; Roovers, Jolien^{Aff3, Aff4}; Suner, Marie-Marthe^{Aff2, Aff5}; Gonzalez, Jose M.^{Aff2, Aff5}; Uszczynska-Ratajczak, Barbara^{Aff6, Aff7, Aff8}; Pervouchine, Dmitri^Aff9; Fitzgerald, Stephen^Aff2; Viola, Margarida^{Aff3, Aff4}; Stamberger, Hannah^{Aff3, Aff4, Aff10}; Hamdan, Fadi F.^Aff11; Ceulemans, Berten^Aff12; Leroy, Patricia^Aff13; Nava, Caroline^{Aff14, Aff15}; Lepine, Anne^Aff16; Tapanari, Electra^{Aff2, Aff5}; Keiller, Don^Aff17; Abbs, Stephen^Aff18; Sanchis-Juan, Alba^Aff19; Grozeva, Detelina^Aff20; Rogers, Anthony S.^Aff1; Diekhans, Mark^Aff21; Guigó, Roderic^{Aff6, Aff7}; Petryszak, Robert^Aff5; Minassian, Berge A.^{Aff22, Aff23}; Cavalleri, Gianpiero^Aff24; Vitsios, Dimitrios^Aff25; Petrovski, Slavé^Aff25; Harrow, Jennifer^{Aff2, Aff5, Aff26}; Flicek, Paul^Aff5; Lucy Raymond, F.^Aff20; Lench, Nicholas J.^{Aff1, Aff27}; Jonghe, Peter De^{Aff3, Aff4, Aff10}; Mudge, Jonathan M.^{Aff2, Aff5}; Weckhuysen, Sarah^{Aff3, Aff4, Aff10}; Sisodiya, Sanjay M.^{Aff28, Aff29}; Frankish, Adam^{Aff2, Aff5, IDs4152501901067_cor36}
Source:	npj Genomic Medicine. 4(1)
Database:	Springer Nature Journals