American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.

Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship.

Decomposing perseverative errors among undergraduates scoring high on the Schizotypal Personality Questionnaire.

Cognitive control (CC), the capacity to flexibly direct resources to a goal by selecting and integrating relevant contextual information, is impaired among persons with schizophrenia-spectrum disorders. CC is achieved, in part, through shifting one's cognitive set towards stimuli of task relevance. Set-shifting deficits typically result in perseverative errors, like those captured by the Wisconsin Card Sorting Test (WCST).

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We performed mutational analyses on 325 individuals with definite tuberous sclerosis complex diagnostic status. We identified mutations in 72% (199/257) of de novo and 77% (53/68) of familial cases, with 17% of mutations in the TSC1 gene and 50% in the TSC2 gene.