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: 2
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: 8
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.
American Journal of Medical Genetics, Part A.
Times cited: 6