Her first words were spoken in the second year of life, and full sentences did not emerge until the age of five. She currently speaks some ambiguous words. Her most recent neuropsychological testing demonstrated a very low WISC-V full-scale score falling within the Composite Score Range of 70...
Genet Med advance online publication 19 March 2015 Key Words: clinical sequencing; genome sequencing; genomics; rare disease; undiagnosed diseases INTRODUCTION The traditional approach to rare, severely disabling medical conditions frequently leaves the affected individual without a diagnosis and effective ...
This proband is the only child of consanguineous healthy parents (first cousins). This individual is an 18-year-old Iranian female with a history of ASD, intellectual disability, obesity, and seizures. Born full-term by spontaneous vaginal delivery, she had average biometric parameters. From her ...
it produces called genotypes for every sample at all variant positions, not just the ones that were detected in a given individual. This makes it possible to differentiate between a position that matches the reference sequence with high probability and a position in which the sample ...
In other words, we observed a linear increase in eotaxin-1 levels for non-haplotype carriers but not for haplotype carriers. This decoupling suggests that this haplotype exerts a complex regulatory effect on eotaxin-1 levels. Although the age-associated increase in eotaxin-1 levels has been ...
The exception is inborn errors of metabolism, the largest group of genetic intel- lectual developmental disorders that are amena- ble to causal therapy — in other words, interven- tions that directly target pathogenesis at the cellular and molecular level.8 For example, the discovery that ...
Genet Med advance online publication 30 July 2015 Key Words: autosomal recessive; deafness; exome; next-generation sequencing INTRODUCTION Deafness is a global public health concern that affects 1 to 3 per 1,000 newborns.1 In more than half of the cases of con- genital or prelingual deafness...
Genet Med advance online publication 29 January 2015 Key Words: genetic education; medical education; personal genomes; whole-genome sequencing INTRODUCTION Whole-exome sequencing (WES)/whole-genome sequencing (WGS) is now used routinely in research and clinical applications. The demand for WES/WGS ...
In other words, it is entirely possible that natural environments can impact upon all human-associated microbial communities, which in turn could influence nerve cell communication. Taken together, the above evidence provides plausible mechanisms by which external environmental (including airborne) ...
The classification step uses a proprietary algorithm that provides species-level classifications for paired-end reads, involving matching short subsequences of the reads (called words) to a set of 16S reference sequences (Illumina-curated version of the Greengenes database). The accumulated word ...