NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): Case report of a new member of thin corpus callosum SPG-Subgroup.
BMC Medical Genetics.
Times cited: 1
Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance.
BMC Research Notes.
Times cited: 7
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
American Journal of Human Genetics.
Times cited: 3