… The following case report illustrates our approach to a patient with SMD [Niyazov and Africk,
… Skladal D, Halliday J, Thorburn D: Minimum birth prevalence of mitochondrial respiratory …

Autism spectrum disorder (ASD) affects ~ 2% of children in the United States. The etiology
of ASD likely involves environmental factors triggering physiological abnormalities in …

To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …

Background Some copy-number variants are associated with genomic disorders with
extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents …

Using whole-exome sequencing, we have identified in ten families 14 individuals with
microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, …

Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate
to severe intellectual disability (ID) with limited or no expressive speech, characteristic …

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism
and schizophrenia, and similar deletions have been identified in individuals with …

… (D) Transactivation assays were performed in COS1 cells transiently cotransfected with the
IL4 promoter cloned into pGL3 vector reporter construct (kindly provided by Michael Lohoff, …

Purpose: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant
disorder characterized by optic atrophy and intellectual disability caused by loss-of-…

Background Endolymphatic hydrops is believed to be associated with a number of ear
diseases, including Ménière's disease. Although the pathologic changes of overaccumulation of …