Publications & News - ASHG

Publications & News

Kimberly Jade, PhD

Inside AJHG: A Chat with Kimberley Anderson

Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KA: In the beginning I was really interested in characterizing Pilarowski-Björnsson Syndrome (PILBOS), as a recently identified genetic disorder. I was motivated by the open-ended potential for uncovering the biological mechanisms of the disorder and for... Read More

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Inside AJHG: A Chat with Thorkild Terkelsen

Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? TT: This project started with a family affected by a rare X-linked recessive neurological disease where a genetic diagnosis had been pursued for many years. When I joined the project, the disease had recently been linked... Read More