Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis Daniele GalatoloAlessandra TessaFilippo M. Santorelli Review Article 06 December 2017 Pages: 1 - 8
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation Jing-Yang WangPeng ZhouWei-Ping Liao Original Article 13 November 2017 Pages: 9 - 16
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder Anthony J. GriswoldDerek Van BoovenMargaret A. Pericak-Vance Original Article 18 November 2017 Pages: 17 - 26
The contribution of 7q33 copy number variations for intellectual disability Fátima LopesFátima TorresPatrícia Maciel Original Article 19 December 2017 Pages: 27 - 40
Monogenic disorders that mimic the phenotype of Rett syndrome Siddharth SrivastavaSonal DesaiSakkuBai Naidu Original Article 10 January 2018 Pages: 41 - 47
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth Pirjo IsohanniChristopher J. CarrollAnu Suomalainen Short Communication 19 January 2018 Pages: 49 - 53
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing Stefanie SpieglerMatthias RathUte Felbor Short Communication 02 December 2017 Pages: 55 - 59
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy J. L. ZamboninD. A. DymentS. Venkateswaran Short Communication 15 December 2017 Pages: 61 - 65
