Charles A Steward Jolien Roovers Marie-Marthe Suner Jose M Gonzalez Barbara Uszczynska-Ratajczak Dmitri Pervouchine Stephen Fitzgerald Margarida Viola Hannah Stamberger Fadi F Hamdan Berten Ceulemans Patricia Leroy Caroline Nava Anne Lepine Electra Tapanari Don Keiller Stephen Abbs Alba Sanchis-Juan Detelina Grozeva Anthony S Rogers Mark Diekhans Roderic Guigó Robert Petryszak Berge A Minassian Gianpiero Cavalleri Dimitrios Vitsios Slavé Petrovski Jennifer Harrow Paul Flicek F Lucy Raymond Nicholas J Lench Peter De Jonghe Jonathan M Mudge Sarah Weckhuysen Sanjay M Sisodiya Adam Frankish
10.1038/s41525-019-0106-7
NPJ Genom Med
2019 Dec 2;4:31.
medical genomics molecular medicine
CC BY
https://pubmed.ncbi.nlm.nih.gov/31814998/
PMC6889285
31814998
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
2019