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Somatic mutations in cerebral cortical malformations.
TLDR
Targeted high-coverage sequencing was applied to leukocytederived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome, and validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing.
Clinical application of next-generation sequencing for Mendelian diseases
TLDR
Next-generation sequencing allows for the analysis of multiple regions of the genome in one single reaction and has been shown to be a cost-effective and efficient tool in investigating patients with Mendelian diseases.
From Big Data to Precision Medicine
TLDR
Both the opportunities and challenges posed to biomedical research by the increasing ability to tackle large datasets are discussed, including the need for standardization of data content, format, and clinical definitions.
Williams–Beuren syndrome in diverse populations
Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with
Somatic mutations in cerebral cortical malformations.
TLDR
Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations and potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria were found.
Down syndrome in diverse populations
TLDR
Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of0.924, and accuracy of 1.065, demonstrating the accuracy and promise of digital facialAnalysis technology in the diagnosis of Down syndrome internationally.
Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome
TLDR
Findings show that DCC is a master regulator of midline crossing and development of white-matter projections throughout the human central nervous system (CNS), including loss of all commissural tracts at multiple levels of the neuraxis.
Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia
TLDR
Deferiprone is an orally active iron-chelating agent used in the management of transfusion-related hemosiderosis and has been shown to be effective in reducing cardiac iron load and improving cardiac function.
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