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Archive of entries posted on June 2014

39 novel pathogenic mutations for Usher Syndrome

It took us quite a while, but finally we got our paper accepted. That means 39 variants of unknown clinical significance can now be regarded as disease causing. You will find all annotations in GeneTalk, as well as in CinVar in one of the next releases.

New case solved with the help of GeneTalk

Hey Mateusz, congratulations on your new paper: “Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome”. And thank you contribution valuable annotations to our knowledge base!

ESHG 2014

Yes, you are right, that’s a glass of pickled gherkins in front of us and it was completely empty after the ESHG conference in Milan. Thus no slack season for GeneTalk! Thanks for all your interest!