A few of our customers have published recently and I would like to take the time to both recognize them for their achievement and pass on their articles. Enjoy!
- Kazima Bulayeva at the Vavilov Institute of General Genetics and her colleagues recently published Genomic Structural variants are linked with intellectual disability in the Journal of Neural Transmission. The paper looks at mutations in more than 500 genes that have been associated with intellectual disability and related cognitive disorders using a combination of population and molecular genetic approaches.
- At the University of Utah, Rebecca Margraf and her colleagues published Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1 in the Journal of Medical Genetics. The study uses exome sequencing to compare germline and surgically resected NF1 tibial pseudarthrosis tissue.
- Gholson Lyon of Cold Spring Harbor and colleagues published A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features in bioRxiv which describes the discovery of a new syndrome, RykDax syndrome, driven by a whole genome sequencing study of a family from Utah.
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