Trainee Author: Johanna Känsäkoski PhD student University of Helsinki (Photo courtesy Känsäkoski) Johanna Känsäkoski et al. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. Scientific Reports (2016); 6: 32819. This paper highlights the use of sequencing technology to identify causative mutations in patients with a normal androgen receptor... Read More
Trainee Author: Lise Barbé, PhD Postdoctoral Scholar Gladstone Institutes (Photo courtesy Dr. Barbé) Lise Barbé ́et al. CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy. The American Journal of Human Genetics (2017); 100(3);488-505. This paper sheds light on the genetic mechanisms underlying myotonic dystrophy. This disease is caused by tri-nucleotide repeat... Read More
Trainee Author: Douglas Dluzen, PhD Postdoctoral Fellow National Institute on Aging (Photo courtesy Dr. Dluzen) Dluzen DF et al. Racial differences in microRNA and gene expression in hypertensive women. Sci Rep. 2016 Oct 25;6:35815. doi: 10.1038/srep35815. This paper emphasizes the importance of miRNA on population specific gene expression patterns. Dluzen et al. demonstrate that differential expression of a set... Read More
Trainee Author: Sureni Mullegama, PhD ABMGG Clinical Molecular Genetics Fellow University of California, Los Angeles (Photo courtesy Dr. Mullegama) Sureni Mullegama et al. Clinical and Molecular Aspects of MBD5-Associated Neurocevelopmental Disorder (MAND). European Journal of Human Genetics, 24, 1235-1243, (2016). This review provides a comprehensive description of the current state of research for a group of disorders recently... Read More
Trainee Author: Tanya Phung PhD Student University of California, Los Angeles (Photo courtesy Ms. Phung) Tanya Phung et al. Determining the Effect of Natural Selection on Linked Neutral Divergence across Species. PLoS Genetics, 12(8): e1006199 (2016). This paper provides an interesting look at the effect of natural selection on neutral variation and how that could affect interpretations of... Read More
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