14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeCarolyn Ellaway, John Christodoulou|European Journal of Human Genetics|2012Cited by 76
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J. Van Bergen, Håkon Håkonarson, Julia Rankin et al.|Brain|2018Cited by 71